6: Genetic Susceptibility to Periodontal Disease

Genetic Susceptibility to Periodontal Disease

Scott R. Diehl, Chih-Hung Chou, Fengshen Kuo, Ching-Yu Huang and Olga A. Korczeniewska

It is now widely accepted that differences among individuals who are at risk for the development of most diseases have a substantial inherited component. Factors in the environment (e.g., diet, smoking, preventive care, exposure to pathogens) interact with each person’s genetic predisposition to determine his or her health outcomes. This complex combination of variables determines if and when a disease affects the person, how fast and how severely symptoms of the disease progress, and how the person responds to different treatments in terms of both side effects and the success of alternative therapies. Sometimes—and particularly with diseases such as cystic fibrosis and muscular dystrophy—the genetic component of risk predominates, and differences in environment play only a minor role. With other diseases, factors in the environment are most important, and variation inherited in the person’s deoxyribonucleic acid (DNA) has only an infrequent or minor influence on disease susceptibility or progression. Examples of the latter include infectious diseases such as human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) as well as cancers such as mesothelioma, which is strongly associated with asbestos exposure. The majority of human diseases fall halfway between these two extremes, with genes and the environment both playing very important roles.

Most cases of periodontitis appear to fit this complex gene and environment model. With the exception of a handful of very rare syndromes caused by mutations of single genes, evidence indicates that inherited variation in DNA has a role roughly equal to that of the environment in determining who remains periodontally healthy versus who is affected by this disease. Beyond this broad generalization, however, and despite hundreds of studies of genetic polymorphisms reported to date, our understanding of which specific genes are important remains extremely limited. We know even less about the likely (though unproven) role that individual genetic differences may have in determining how patients respond to alternative periodontal treatments.

In this chapter, the challenges and barriers that have thus far limited progress in advancing our knowledge of the complex genetics of periodontitis will be reviewed. This requires a clear understanding of not only the architecture of the human genome and the complexity of genetic susceptibility but also of the critical roles that statistical power and sample size play in the process of discovery. These latter issues are important for all areas of research but especially for situations in which a large number of variables need to be evaluated. In genetic studies, more than 23,000 genes need to be considered as potential hypotheses or “candidates” for being disease risk factors. Depending on the gene’s size and the frequency of genetic recombination in the gene’s chromosomal region, scientists need to evaluate between a handful or up to several hundred inherited DNA variants in each gene as potential “biomarkers” of disease risk. Each one of these variants essentially amounts to a test of the hypothesis as to whether the variant is associated with disease risk. Furthermore, many complex diseases have been found to be very strongly associated with DNA variation in parts of the human genome where no genes are known to exist but where the genetic material may have important functional effects nonetheless. Therefore, to fully evaluate the entire human genome, the total number of hypotheses that need to be tested is truly enormous and involve roughly the equivalent of 1 million independent statistical tests. Only during the past few years have laboratory and computational tools been developed that make this scale of work technically possible, and thus far only one recent study has reported results of a whole genome analysis for periodontitis.

Opportunities for advanced study designs and next-generation genomic technologies to improve the understanding of the inherited basis of periodontitis make it likely (although by no means certain) that genetic variation will become an important variable to be routinely considered by practicing dentists within the next 5 to 10 years. If and when this occurs, dentists will need to learn how to access and interpret the massive amounts of information coded in the more than 3 billion bases of DNA in the human genome and to incorporate this into improved evidence-based practices for periodontal disease prevention, diagnosis, and treatment. Alternatively, new interdisciplinary teams will need to be established with dentists as key members working closely with experts in bioinformatics, genomics, and genetic counseling so that patients will be able to reap the potentially significant benefits of these scientific advances. However the process evolves, it will surely lead to revolutionary changes in both dental education and dental practice in the not-so-distant future.8,26

Genetic and Genomic Methods of the 21st Century

Most health care professionals are aware of the many major advances in genetics accomplished during the past 20 years since the Human Genome Project officially began in 1990.46 Headlines and announcements of “breakthroughs” have appeared regularly in print and television media. Too often, many of these stories seem to promise rapid and significant improvements in health care that are totally unrealistic.11 More cautious assessments are usually not deemed as newsworthy by the media, and cautious understatement is not always in the interest of private companies and granting agencies involved in basic research and clinical trials. Consequently, the public has often received an overly optimistic picture of what the future of medical care based on genomic medicine really holds for them. Despite this all-too-common overstatement about rapid translation to clinical practice, advances in technical capabilities for genomic data acquisition and the accumulation of knowledge in the field of genetics have been truly enormous. The eventual impact of this explosion of biologic knowledge on all areas of human health, including those concerning the field of dentistry, is certain to be very substantial over the longer term.

Unfortunately, for reasons explored further in the next section, genomic advances have thus far contributed very little to advancing our understanding of the molecular–pathologic causes of periodontitis or pointed toward ways to improve treatment through “individualized” approaches that are based on a patient’s inherited genetic variation. Only recently has the possibility of making major progress been realized on the basis of newly available genomic tools and approaches involving genome-wide association studies (GWAS; pronounced “gee-wahs”) and “next-generation” DNA sequencing techniques. For these research strategies to be successful, however, they must be combined with further improvement in research definitions of periodontal disease and much larger sample sizes than have been used in most previous genetic studies of this condition. To help improve understanding, some of the commonly used terms in genetics are explained in Table 6-1.

TABLE 6-1

Glossary of Terms Relevant to the Genetics of Periodontal Disease

Allele One of several possible alternative forms of a gene caused by small or large differences in the DNA sequence within or near the gene. These differences arise by mutation, and some may affect the function of the gene product (i.e., a protein) or its abundance in different kinds of cells.
Autosome A chromosome that is not a sex chromosome.
Autosomal dominant DNA variation in a gene located on an autosome that has a dominant effect over other forms of variation at this location within the gene. When the dominant DNA sequence is present in combination with some other sequence, the gene’s function is entirely or nearly entirely determined by the dominant sequence, whereas the alternative sequence that occurs on the person’s other chromosome is essentially silent.
Autosomal recessive DNA variation in a gene located on an autosome that has an effect on the gene’s function only when the person has inherited two copies: one from the mother and the other from the father. For example, if an individual has two copies of an abnormal gene that is autosomal recessive, they will be subject to the effects of that gene.
Chromosome A nuclear structure that contains genetic information. Humans have 46 chromosomes that are arranged in 23 pairs. There are 22 pairs of autosomes and one pair of sex chromosomes (either XX or XY).
Concordance The probability that a pair of individuals (e.g., twins) both have a certain characteristic (e.g., periodontal disease), given that one of the pair has the characteristic. Presented as a number from 0 to 1 or as a percentage.
Dizygotic twins Twins that have resulted from the fertilization of two separate eggs. They are no more similar to each other (from a genetic perspective) than are nontwin siblings. Nonidentical twins.
Epigenetics Term used to describe the changes in phenotype or gene expression that result from mechanisms other than changes in the underlying DNA sequences (i.e., changes in which the gene is expressed rather than a change in the DNA sequence itself). Nongenetic factors cause the organism’s genes to be expressed differently.
Exon Protein coding regions of DNA.
Frameshift mutation A mutation that results from the insertion or deletion of one or more nucleotides into a gene, thereby causing the coding regions to be read in the wrong frame and usually causing the protein produced to be defective in function.
Gene The basic unit of heredity that occupies a specific position (locus) on a chromosome and that has specific effect(s) on the phenotype of the organism. A piece of DNA that is transcribed into a molecule of RNA and then translated into a protein.
Gene expression The process by which the information in a gene is used via transcription and translation, thereby leading to the production of protein. Differences in gene expression can affect the phenotype of the organism, including the risk of disease.
Genetic code In RNA and DNA, the consecutive nucleotide triplets (codons) that specify the sequence of amino acids for protein synthesis (translation).
Genome The entire hereditary information of an organism. This term refers to all of the genes and other nongene portions of DNA carried by an individual cell.
Genotype The genetic makeup of an organism or cell as distinct from its expressed features or phenotype.
Haplotype A contraction of the term haploid genotype. This word refers to a combination of alleles at multiple loci, which are usually transmitted together on the same region of a chromosome.
Heredity The passing of traits to offspring from parents or ancestors. In biology, the study of heredity is referred to as genetics. As a result of heredity, variation among individuals allows species to evolve by natural selection in response to changes in their environment or by random change over long periods of time.
Homozygous The presence of identical alleles at a specific position in a gene.
Heterozygous The presence of two different alleles at a specific position in a gene.
Intron A DNA region within a gene that is not translated into protein. These intervening (noncoding) portions of DNA or RNA are removed during RNA processing.
Isoform Any of several different forms of the same protein. Isoforms may be produced from related genes, or they may arise from the same gene via alternative splicing. Many isoforms are caused by single nucleotide polymorphisms.
Ligand A molecule that binds to another molecule (usually a cellular receptor molecule).
Linkage A term used to describe the tendency for certain genes to be transmitted from parent to child together because they are located close to each other on the same chromosome.
Linkage disequilibrium The occurrence of specific alleles at different locations in the DNA that are relatively close to each other (linked) more often than would be expected by chance alone (disequilibrium).
Locus The physical location that a gene occupies within a chromosome. (Plural: loci.)
Monozygotic twins Twins with identical genetic makeup (i.e., identical twins) as a result of the fertilization of a single egg that then splits into two embryos.
Mutation Changes in the DNA sequence of the genome can result from errors that occur during DNA replication or meiosis and can be caused by radiation, viruses, and mutagenic chemicals. Most mutations have very little or no measurable effect on the gene’s function; some are harmful, and a rare few may be advantageous.
Nucleotide Molecules that, when linked together, make up the structural units of RNA and DNA. They are composed of a phosphate group; the bases adenine, cytosine, guanine, and thymine; and a pentose sugar. In RNA, the thymine base is replaced by uracil.
Penetrance The proportion of individuals who have a particular allele/genotype who express an associated trait (phenotype). Genotypes with a high penetrance result in a larger number of individuals in the population with the associated phenotype as compared with genotypes with a low penetrance.
Phenotype The observable characteristics displayed by an organism (e.g., morphology, development, gender, eye color, physiologic properties, behavior). Phenotype results from the expression of the organism’s genes as well as from the influence of environmental factors and interactions between the two.
Polymorphism Polymorphism exists when two or more different phenotypes exist within different individuals of the same population. In the context of genetics, it refers to a region of the genome that varies between individual members of the population in such proportions that the rarest of them cannot be maintained just by recurrent mutation. Polymorphism may be actively maintained in populations by natural selection and also by random drift.
Sequencing Determining in the laboratory the linear arrangement of nucleotides (in RNA or DNA) or amino acids (in proteins).
Single nucleotide polymorphism (SNP) A polymorphism in a gene caused by a change in a single nucleotide in the DNA sequence. A large number of protein isoforms result from SNPs. SNPs occur frequently; approximately every 100 to 1000 base pairs occur as a result of deletions, insertions, and substitutions. There are estimated to be more than 10 million SNPs in the human genome. Many SNPs that occur in genes have no effect on the encoded protein, but some SNPs do influence the function of the protein that the gene produces. An SNP initially arises as a very rare mutation, but it is considered to be an SNP if it occurs in at least 1% of the population.
Signal transduction A cascade of intracellular events that occurs after the binding of an extracellular signal (e.g., a hormone, a cytokine) to a receptor on the cell surface. The intracellular cascade can result in changes in gene expression in the nucleus and hence an altered phenotype of the cell (e.g., as a result of different protein production).
Splicing The removal of introns from transcribed RNA. The process of removal can vary, and some exons are skipped or excluded from splicing. This causes the production of “splice variants” or “alternatively spliced” protein isoforms, thereby resulting in the formation of different proteins from the same initial RNA.
Transcription RNA synthesis. The process of creating an RNA copy of an equivalent section of DNA is the first step of gene expression, and it occurs in the nucleus. The RNA copy that is produced is called messenger RNA (mRNA).
Translation The first stage of protein synthesis. mRNA produced during transcription is decoded to produce an amino acid chain that will later fold into an active protein. Translation occurs in the cytoplasm: ribosomes bind to the mRNA and then facilitate decoding via the binding of transfer RNAs (tRNAs) that have complementary anticodon sequences to those of mRNA. The tRNAs carry specific amino acids that are joined together to form a polypeptide as the mRNA passes through the ribosome.

DNA, Deoxyribonucleic acid; RNA, ribonucleic acid.

Patterns in Populations and Pedigrees

With all of the attention focused on silicon arrays, laser scanners, and the other “glamorous” gadgets of advanced genomic technologies, it is important to consider how much needs to be learned about the genetic basis of a disease before stepping into a DNA laboratory. In fact, a strong foundation of knowledge about a disease’s frequency in different populations and its occurrence among closely and distantly related family members (i.e., pedigrees) is absolutely essential. Without this foundation, endless gigabytes of DNA sequence data will not enable scientist–clinicians to develop a solid understanding of the causes of a disease. The human genome has not evolved in a test tube nor of inside a supercomputer; rather, it has existed for millennia in natural populations and been transmitted from generation to generation, from parents to children. Only by carefully studying the genetics of a disease in populations and pedigrees can we hope to begin to unearth the complex interactions between genes and the environment that underlie individual differences in disease susceptibility. This field of research is known as genetic epidemiology.

Genetic epidemiologists often first look at whether a disease occurs more often in some human populations than others. These comparisons can include both populations in different geographic areas as well as racial or ethnic groups living in the same region. Does the disease have more severe symptoms, more rapid rates of progression, or an earlier age of onset in some populations? Such findings suggest (but do not prove) that genetic differences that are important for the disease may exist among the populations.

Before the massive human migrations in recent centuries, most human populations existed in semi-isolation from other populations around the globe. As a consequence of natural selection (i.e., differential survival and reproduction), populations sometimes adapted genetically to their local environments. The most famous example of adaptation is the sickle cell hemoglobin variant that protects an individual against the infectious disease malaria. This variant is common among populations who live in areas where this mosquito-borne parasite has long been endemic, because it provides strong protection against the severe symptoms of this disease. The variant persists at high frequency in these populations, although persons who inherit two copies of the mutation (i.e., one from mother and one from father) are severely affected by the disease sickle cell anemia. A balance between the benefit of malaria resistance in persons who inherit only one copy of the variant versus the disadvantage of sickle cell disease keeps the variant at relatively high frequencies among populations where malaria is present. Another example of population differentiation by natural selection is the ability to digest the milk sugar lactose as an adult that evolved in Europeans in conjunction with the domestication of dairy cattle more than 8000 years ago. In addition to differentiation driven by natural selection, as is seen in these examples, a random process called genetic drift also causes populations with little or no migration between them to differentiate genetically over time. Thus, one cannot assume that every population difference observed has a functional biologic basis.

Regrettably, the comparison of periodontitis in different populations across the globe is extremely challenging because of the lack of calibrated examiners and standardized disease definitions.6 One of the most dramatic population differences in which data quality is not an issue is the observation that both localized and generalized forms of early-onset aggressive periodontitis occur about 10 times more frequently among African Americans as compared with Caucasians.33 Human racial and ethnic groups often differ dramatically with regard to the frequency of mutations at genes that have major effects on disease risk. For example, cystic fibrosis is caused exclusively by recessive mutations in the CFTR gene, and it varies in frequency from 1 in 3000 Caucasians to 1 in 15,000 African Americans in the United States, whereas only 1 in 350,000 Japanese individuals are affected.49 It is possible that the tenfold higher prevalence of early-onset aggressive periodontitis in African Americans is caused by the elevated frequency of high-risk gene variants in this population. However, additional evidence is needed before such a conclusion can be drawn. Although comparative studies of different populations may provide clues as to possible genetic mechanisms underlying a disease, the environments of the populations may also be dissimilar in important ways. It is possible that variations in diet or in exposure to pathogenic oral bacteria or to some unknown and unmeasured environmental factors could entirely explain the observed differences in the frequency of aggressive periodontitis between population groups. Until solid data confirm a genetic basis for population differences, we need to wait before drawing firm conclusions.

The comparison of disease occurrence or severity in identical (monozygotic) versus nonidentical (dizygotic) twins is a very powerful method for distinguishing between effects caused by variation in genes versus factors in the environment. This requires us to make what is usually a reasonable assumption that the environments of pairs of identical twins are no more or less similar than the environments shared by pairs of nonidentical twins. If variation among individuals in disease susceptibility or severity is caused entirely by factors in the environment, then we expect pairs of identical twins to be no more similar to each other than pairs of nonidentical twins. All twins (whether identical or nonidentical) are expected to be more similar to their co-twins, on average, than to unrelated members of their local population because they were raised in the same family environment, with similar diets, microbial exposures, and so on. However, if genetic variation plays an important role in determining a certain trait, then genetically identical twin pairs will be more similar to each other than nonidentical twin pairs. This is because identical twins share 100% of the same genes, whereas nonidentical twin pairs share only 50% of their parents’ genes on average. Genetic epidemiologists calculate a measure called heritability that is based on these correlations and that estimates the portion of all variation in the trait that is attributable to inherited genetic variation. Traits with variation that is determined entirely by differences in environmental exposures have heritabilities of 0.0, whereas traits with variation attributable solely to inherited genetic differences without any environmental influence have heritabilities of 1.0. Heritabilities are sometimes reported as a percentage that ranges from 0% to 100%.

Most human diseases and nondisease traits fall in the middle of this range, with heritability ranging between 0.25 and 0.75. For example, in one study, type II diabetes was estimated to have a heritability of 0.26, and abnormal glucose tolerance had a heritability of 0.61.50 Note that, for it to be feasible to use the twin method with adequate statistical power, the disease has to be fairly common so that the researcher can recruit enough twin pairs in which at least one of the twins is affected by the disease. Not surprisingly, with regard to periodontal disease, only chronic periodontitis occurs frequently enough to have been studied using the twin design. Two twin studies of modest size (i.e., 110 and 117 pairs) have been reported, and these estimate the heritability of measures of chronic periodontitis to range between 40% and 80%, thereby clearly implicating genetic variation in disease risk.43,44 Interestingly, a study of bacteria associated with periodontitis found no difference between identical versus nonidentical twins.45 This suggests (at least for these twins, most of whom did not have severe periodontitis) that inherited variation in risk is not mediated by genes that influence the presence of specific bacteria in subgingival plaque.

Another method used by genetic epidemiologists to understand and distinguish different mechanisms of transmission of diseases through families is called segregation analysis. This is relatively straightforward for traits in which mutation in a single gene causes the disease to develop with nearly 100% certainty in carriers, whereas persons who do not inherit the mutation are at little or no risk. For example, carriers of a single copy of the Huntington disease gene mutation or carriers of two copies of a cystic fibrosis gene mutation always develop these diseases if they reach the ages at which symptoms of these conditions normally emerge. By tracking the transmission of these diseases in families, it is obvious, for example, that Huntington disease is a dominant single-gene disorder: it is transmitted with 50% probability to offspring of affected individuals and thus it is often found occurring across many generations of large pedigrees. By contrast, parents of children with cystic fibrosis are very rarely affected themselves, and 25% of siblings are affected by cystic fibrosis when the disease is present in a nuclear family. This pattern of transmission is expected if a disease is recessive (i.e., it requires the inheritance of a mutated gene copy from both parents, who themselves have one normal and one mutated copy and so are not affected). For most common “complex” diseases, however, having a high-risk gene does not automatically lead to development of the disease; this phenomenon is called reduced penetrance. Furthermore, several genes or even dozens of different genes may influence disease susceptibility; this is known as oligogenic inheritance and genetic heterogeneity. Environmental exposures are also important modifiers of disease risk. Such highly complex combinations of multiple genetic and environmental risk factors make the challenge of deciphering genetic mechanisms by merely observing transmission patterns in families using the segregation analysis approach unfeasible. The limitations of this approach were humorously illustrated a number of years ago in an analysis that facetiously presented evidence of a recessive gene controlling the trait of attending medical school.39 “Risk” for this outcome among first-degree relatives of a doctor was elevated 61 times above that of the general population. More recently, a robust quantitative analysis of the family histories of characters in the Harry Potter series suggested that a dominant gene controls the inheritance of magic abilities.54 Because the etiology of periodontitis is likely to be highly complex, segregation analyses of this disease that have been reported in the literature should be viewed with considerable skepticism. Unfortunately, the simplifying assumptions required for this method make the results unreliable and potentially misleading. For highly complex diseases, such as most cases of periodontitis, assays at the DNA level need to be combined with careful evaluations of clinical measures among related individuals to derive robust conclusions about a disease’s genetic architecture. Some of the key features of the different techniques for studying the genetics of periodontal disease are explained in Table 6-2.

TABLE 6-2

Techniques for Studying the Genetics of Periodontal Disease

Candidate gene approach A gene-mapping approach that tests whether one allele of a gene occurs more often in patients with the disease than in subjects without the disease. These methods are also referred to as association analyses, and they aim to identify which genes are associated with the disease. Candidate genes are chosen on the basis of their known or presumed function (i.e., they have some plausible role in the disease process, such as producing a protein that is important in the disease pathogenesis). Conceptually this makes sense, but it requires some knowledge of the candidate gene to look for it!
Case–control studies Studies in which the genetic makeup is compared between cases (who have the disease in question) and controls (who do not). The populations need to be carefully matched, otherwise apparent observed differences between cases and controls could arise because of ethnic or geographic variation, for example.
Twin studies Comparisons of traits—including diseases in monozygotic, dizygotic, or usually both types of twins—aimed at determining whether variation in the trait among members of a population is caused by genetic variation in inherited DNA sequences, environmental exposures in the subjects’ lives, or some combination of both of these processes. Twin studies often measure the concordance rates of twins with regard to a particular trait or disease of interest. Monozygotic (identical) twins are very nearly identical in their DNA, whereas dizygotic (nonidentical) twins share an average of half of their DNA as identical sequences inherited from their parents. If a disease has high heritability, identical twins will be more likely to either be both affected or both unaffected (concordant). However, this assumption is complicated in many diseases. A genetic mutation may not have complete penetrance, and environmental conditions may contribute to the development of the disease (e.g., one twin may smoke and the other may not). Furthermore, many diseases are polygenic (i.e., caused by alterations in multiple genes).
Familial aggregation and relative risk Many diseases run in families, and the degree of clustering within the family can be estimated by comparing the number of disease cases in relatives of patients to the risk of disease in the general population. Difficulties with this approach relate to the fact that, in addition to having many genes in common, family members also share many aspects of a common environment (e.g., diet, nutrition, smoking, infectious organisms, shared socioeconomic factors).
Segregation analyses Statistical analyses of the patterns of transmission of a disease in families in an attempt to determine the relative likelihood that the disease is caused by a single gene with dominant or recessive inheritance, by multiple genes, or entirely by variation in exposure to risk factors. The observed proportions of offspring who have the trait or disease being evaluated (i.e., the phenotype) are compared with the proportions expected to be found in the general population.
Linkage analysis A technique used to map a gene responsible for a trait to a specific location on a chromosome. These studies are based on the fact that genes that are located close to each other on the chromosome tend to be inherited together as a unit. As such, these genes are said to be “linked.” Because linkage analysis initially requires the use very expensive DNA markers, this was originally only considered justified after finding strong evidence of a genetic basis for a trait with the use of segregation analyses or family aggregation studies. One difficulty with linkage analyses is that many diseases are not caused by a single gene of “major” effect but rather by multiple genes of “minor” effect. In the latter situation, multiple genes each contribute a small amount to the phenotype, disease, or trait. The linkage study approach has little power for detection, whereas association analysis methods may still be quite powerful.
Genome-wide analyses A genome-wide association study (GWAS) investigates genetic variation across the entire genome simultaneously, with the aim of identifying genetic associations related to a trait or disease of interest. The completion of the Human Genome Project in 2003 and the development of microarray technologies capable of assaying more than half a million single nucleotide polymorphisms have made GWASs possible. This method has the potential to identify the genetic contributions to common diseases. Because the entire genome is analyzed, an important advantage of this approach is that the technique permits the genetics of a disease to be investigated in a nonhypothesis-driven way. In other words, it is not necessary to correctly guess which candidate genes are most interesting to evaluate. A GWAS requires that well-characterized cases and controls be identified. A disadvantage of GWASs is that large clinical sample sizes are required to reduce the likelihood of differences between the cases and controls being observed simply by chance as a result of the hundreds of thousands of multiple statistical tests required to search the entire human genome.

Searching for Answers in the DNA

In theory, a genetic marker can be any type of biomolecule or assay that allows us to “read” inherited differences among individuals in their DNA sequences. Blood groups, protein isozymes, and human leukocyte antigens (HLAs) were among the first developed markers, but even simple traits that are controlled by single genes (e.g., eye color) can also serve this purpose. Genomic methods have made these methods obsolete, because researchers can now determine a person’s inherited variation directly at the DNA level for a much lower cost and with greater speed and accuracy. So-called “next-generation” DNA sequencing methods are projected to enable researchers and clinicians to obtain nearly the entire 3 billion DNA base human genetic blueprint for less than $1000 a few years from now.18,67 At present, most genetic studies use a combination of whole genome arrays that can evaluate up to 1 million variable DNA sites in a single assay in combination with lower-throughput methods that are used for the fine mapping of chromosome regions of special interest.53 These regions are said to contain candidate genes of high priority for further investigation either because of the genes’ known biologic functions or because results of previous genome-wide surveys indicate strong statistical chances that disease susceptibility genes are located in certain regions of one or more chromosomes. Types of variation include single nucleotide polymorphisms (SNPs; pronounced “snips”) in which one DNA base is substituted for another; small insertions and deletions (“in/dels”) of one or more DNA bases; and larger structural changes in the DNA, such as inversions (in which a piece of DNA of hundreds or thousands of bases in size is cut out and sewn back into the chromosome in the opposite orientation) and copy number changes (in which a given segment of DNA is either missing or occurs in more than the usual two copies inherited as one copy from each parent).

Equipped with these powerful tools for rapidly measuring DNA variation, the next question to address is what kinds of study designs are most powerful for identifying the dozen or more variants that influence the risk of disease from among the millions of DNA differences that exist between any two individuals in a typical population. One method that has been highly successful for finding molecular defects related to simple genetic diseases caused by the mutation of a single gene, such as cystic fibrosis and Huntington disease, is linkage analysis.1,7 This gene-mapping strategy requires families with one or more members affected by the disease to be recruited and clinically and molecularly evaluated for a relatively small number of genetic markers. Depending on the type of marker used, as few as 500 markers or up to 10,000 markers distributed evenly across the genome are needed. Investigators usually try to recruit families with two or more close relatives, such as sibling pairs, who are affected by the disease as well as parents and other siblings who may be unaffected. With a null hypothesis that suggests that a region of the chromosome does not contain genetic variation that influences disease risk, siblings are expected to share identical genetic material inherited from their parents an average of 50% of the time. However, if the region of the chromosome being evaluated contains a gene that has a substantial effect on disease risk (e.g., increases the risk by tenfold or more), then pairs of siblings who are both affected by the disease will share the chromosome region that contains the disease gene substantially more often than 50% of the time, and the null hypothesis of 50% sharing will be statistically rejected if the study has an adequately large enough sample of such families. This simple example illustrates how linkage analysis is performed. In practice, both small and large extended families are studied; this will include the simultaneous evaluation of the sharing of genetic material among both affected and unaffected relatives. Sophisticated mathematical algorithms and computer programs are used to carry out the huge number of calculations required for data analyses.

After achieving many successes with the use of linkage analysis for “simple” diseases caused by the mutation of a single gene, this method was extended to complex diseases caused by combinations of multiple susceptibility genes and environmental risk factors. Unfortunately, these conditions proved to be beyond the reach of linkage analysis in most instances. Numerous studies conducted during the 1990s either failed to find any genes, or initially positive findings failed to replicate. Linkage studies of very large numbers of carefully diagnosed families for complex diseases (e.g., orofacial clefting, in which twin studies had firmly established heritability of 70%) identified at most a tiny fraction of this genetic variation. Mathematical analyses have subsequently shown that the linkage analysis gene-mapping strategy has extremely low statistical power for complex diseases in which each individual susceptibility gene has a relatively small effect on risk (e.g., twofold or less) and in which there is extensive heterogeneity among different families that have different combinations of susceptibility genes and environmental exposures.56 Consequently, it is not surprising that linkage analysis has only been successfully applied to syndromic forms of periodontitis; this information is summarized later in this book.

Disappointment over this setback in human disease mapping caused by the initially unrecognized limitations of linkage analysis was short-lived. An alternative approach called association analysis was also available, although this had been relegated to studies of HLA and a few other markers of special interest during the prime of linkage approaches.1,7 Mathematical analyses indicated that, if we make some reasonable assumptions about the nature of genetic factors in human disease, this method could provide adequate statistical power for finding genes of small to modest effect on risk while requiring only moderately large sample sizes that would be feasible to recruit.56 There was, however, one major catch: to search the entire genome using the GWAS method, the number of genetic markers needed was several orders of magnitude greater (i.e., 500,000 to 1 million assays needed per subject). Fortunately, advances in molecular assay technologies converged at this time period, and several methods of array-based genotyping provided such a capability at an acceptable cost.53

How association studies are used to find disease susceptibility genes is illustrated for the case–control design in Figure 6-1. Association analyses are sometimes referred to as casecontrol studies, although this is only one of several sampling methods that can be used (including studies of families). Genotype frequencies of an inherited DNA variant for a group of periodontitis cases are statistically compared with the frequencies of the variant in a matched group of periodontally healthy control subjects. If the genotype frequencies differ so greatly that the results are very unlikely to occur by chance, then we conclude that the genotype that is more common in the cases as compared with the controls is “associated with” increased disease risk. In Figure 6-1, 59% of the cases have the CC genotype (having inherited a C allele from both of their parents), whereas only 17% of the healthy controls inherited the CC genotype. Therefore, this DNA variant could be used to predict periodontitis risk (but not until after the finding was validated in additional independent studies). Conversely, we can also say that the AA genotype is “protective” against disease because it occurs much more often in the healthy controls (50%) as compared with periodontitis cases (8%). Ideally, the cases and healthy controls are matched as closely as possible for race/ethnicity, smoking behavior, age, gender, and so on so that differences in genotype frequency are likely to be caused by real biologic effects on disease development or progression rather than as artifacts of some kind. For example, it is well known that races and ethnic groups sometimes differ dramatically with regard to genotype frequencies as a result of their historic isolation in different geographic regions. Consider, for example, a study that had mostly Swedish cases and mostly Italian controls. We know that there are thousands of DNA variants that differ substantially among these populations because of their geographic isolation throughout human history. Few if any of these variants have anything to do with differences in disease risk, but they could falsely appear to be associated because of the failure to carefully match ethnicity in cases and controls. In practice, this is usually not a problem, provided that investigators take reasonable precautions with regard to how cases and controls are selected. It is also now routine practice to use several statistical methods to check for mismatching and then adjust for this during data analysis if it occurs.

The good news is now clearly in: association studies have been a boon for the discovery of inherited genetic variation important for a wide range of complex diseases, including diabetes, cardiovascular disease, metabolic disorders, obesity, and mental illnesses. A recent review cites 24 genes identified with unquestionable statistical confidence for type 2 diabetes alone, and the list continues to grow.64 Most of these genetic polymorphisms with elevated risk are very common in the population (i.e., from 5% up to >50%). Although each variant only increases risk slightly (i.e., twofold or less), because the risk alleles are so common, they can account for a nontrivial proportion of the occurrence of disease in the population; this is a measure that epidemiologists call attributable risk.

An especially attractive aspect of the GWAS approach is that, because the entire human genome is searched, we no longer have to depend on prior hypotheses about the disease’s molecular pathology. In most GWAS studies, about half of the statistically definitive findings point to genes that experts in the field had no suspicion whatsoever were involved in the disease’s etiology. This allows researchers to open up entirely new pathways for investigation that may lead to insights about the disease’s biologic mechanism and suggest novel molecular strategies for pharmaceutical or other therapeutic interventions. In more than a few cases, robust GWAS findings implicate regions of the human genome in which no genes appear to be present, thereby highlighting the limitations of our current knowledge of basic genome functions.

Although great progress has been made toward understanding the etiology of many complex human diseases by using GWAS methods, the approach has nevertheless usually failed to account for most of the heritability known to exist for these conditions.12,38 A recent study found that well-established nongenetic diabetes risk factors (e.g., gender, smoking, family history, body mass index, blood lipid and glucose levels) were better predictors of risk than a combination of the top 20 genetic markers for this disease.65 To improve gene-based risk estimates, the missing heritability needs to be found. High hopes are now being placed on the emergence of next-generation DNA-sequencing tools. In theory, these may enable researchers to identify the less common (i.e., 1% to 5%) genetic variants that are predicted to have individual gene effects of greater magnitude on disease risk (i.e., greater than twofold but less than tenfold) that cannot readily be found with the use of either GWAS or linkage analysis methods.

Inherited Variation and Risk of Periodontitis

As a result of the appropriate focus on the role of bacterial infections in the disease pathogenesis of periodontitis, inherited human genetic variation is often referred to as host defense or, somewhat more broadly, host response. However, these terms cover only a small portion of the range of gene functions that may be important for periodontitis risk. Many additional biologic processes that are not directly related to defenses against or responses to infection by microbial pathogens are also likely to play important roles in determining an individual’s susceptibility to this disease.

Periodontitis in Genetic Syndromes and Other Diseases

A number of extremely rare conditions consistently include periodontitis among the array of clinical manifestations that define a syndrome. Many genetic syndromes involve mutations of single genes or larger chromosomal regions. However, a number of syndromes, such as fetal alcohol syndrome, are purely environmental in origin. Some of the syndromes that include periodontitis are caused by mutations in specific genes. For example, mutations in the cathepsin C gene have been shown to cause both Papillon–Lèfevre syndrome (Figure 6-2) and Haim–Munk syndrome as well as some forms of nonsyndromic prepubertal periodontitis, and they may also be associated with a risk of aggressive periodontitis.48 Periodontitis frequently occurs with some subtypes of Ehlers–Danlos syndrome, Kindler syndrome, Down syndrome (trisomy 21), leukocyte adhesion deficiencies (Figure 6-3), hypophosphatasia, two types of neutropenia, and aplasia of the lacrimal and salivary glands. A large triracial extended family demonstrated evidence of a single gene that caused both early-onset aggressive periodontitis and dentinogenesis imperfecta. The gene has been mapped with the use of linkage to a chromosomal region that contains a dentin matrix protein gene.37 Many of these conditions are so rare that few periodontists see even a single case during a lifetime of practice. However, dentists should be aware that these single-gene conditions exist; they need to be prepared to extend clinical evaluations to close relatives and to seek the assistance of or to refer to appropriately trained genetic counselors or specialists if a patient’s medical history or the presentation of multiple symptoms raises the possibility that he or she may be affected. Clinicians can obtain updated information about these conditions by accessing the publicly available Online Mendelian Inheritance in Man database and typing in “periodontitis OR periodontal disease” as the query term.2 Further research is necessary to determine whether inherited variation in the genes that cause these rare syndromes may also influence the risk of nonsyndromic forms of aggressive or chronic periodontitis.

Nonsyndromic Aggressive and Chronic Periodontitis

In this section, evidence for the association of inherited genetic variation with aggressive and chronic periodontitis will be considered for cases that present without the co-occurrence of anomalies or disorders of other parts of the body or of the affected individual’s behavior. Such cases are appropriately classified as nonsyndromic periodontitis. This terminology is similar to the way that other human diseases, such as orofacial clefting, have long been recognized as occurring in both syndromic and nonsyndromic forms. The elevated risk of periodontitis that is associated with metabolic conditions (e.g., diabetes, which is addressed elsewhere in this book) is more appropriately considered a comorbidity rather than being a cause for the designation of a syndrome.

As described previously, twin studies have shown that chronic periodontitis has very substantial heritability, and we know that aggressive periodontitis aggregates strongly in families. Because aggressive periodontitis occurs so rarely, it is not feasible to perform a twin study to confirm the heritability of this condition. Neither segregation analyses nor gene-mapping linkage studies are capable of providing reliable information about the genetic etiology of a highly complex disease such as periodontitis. However, large numbers of susceptibility genes have been identified for complex disorders, such as diabetes and cardiovascular disease, using association analysis. It seems reasonable to expect that similar successes could be achieved for periodontitis using this approach. In fact, during the past decade, several hundred papers have reported associations of nonsyndromic aggressive and chronic periodontitis with polymorphisms in a number of candidate genes. Certain classes of genes (e.g., cytokines) that have long been a focus of attention by immunologists and cell biologists studying pathogenic mechanisms associated with periodontitis have received the most attention. Early reports of relatively weak associations with variation in interleukin-1 (IL-1) genes led to a large number of attempts to replicate and extend these findings. Unfortunately, with very few exceptions, association studies of periodontitis have been very inadequately powered to detect genetic variation with modest effects on disease risk or progression (i.e., sample sizes that are much too small). In addition, inconsistency with regard to the methods used to classify subjects as periodontal cases versus controls or to quantitatively measure disease severity and extent greatly limit our ability to draw sound conclusions by comparing results reported in different studies.

The reason why association studies of periodontitis have largely failed will be challenging to fully address. The first issue is straightforward and simply a matter of numbers. It is noteworthy that the successes achieved for many complex diseases (e.g., diabetes) with the use of the GWAS mapping approach were based on sample sizes involving thousands of cases and controls, with multiple replications by independent teams of investigators. Statistical theory shows that, to detect genes of modest effect, these large sample sizes are absolutely essential. With the use of a statistical power calculator developed for case–control studies,52 sample sizes required for 80% power are shown in Figure 6-4 for a study that involves only a single genetic marker as well as for studies that evaluate 5, 50, or 500 independent genetic markers in which the effects of multiple comparisons need to be accommodated. In this example, we assume that the risk gene acts in a dominant manner, with the high-risk allele occurring at a frequency of 25% in the population, and that this allele causes risk among carriers to increase by twofold (i.e., a greater effect on risk than observed for many susceptibility alleles found in GWAS studies of other complex diseases). Many periodontitis association studies reported in the literature involved multiple markers in each publication, and often the same research team reported positive findings for other genes in subsequent papers. Furthermore, because of the difficulties of publishing negative findings (i.e., when no association is found), many research teams working in this area may assay 50 or more genetic markers over the course of their work over several years. Results shown in Figure 6-4 demonstrate that, to obtain 80% power, a study of 50 markers would require more than 200 cases and 200 controls. Even if a research team assays only 5 SNPs, their study would still require 100 cases and 100 controls to achieve adequate power.

Our search of PubMed in early 2010 using the search term “(periodontal disease OR periodontitis) AND (SNP OR SNPs OR polymorphism OR polymorphisms OR linkage)” identified 311 periodontitis gene association tests with a P value of 0.05 or less for at least one statistical test reported. These results are summarized in Figure 6-5, in which the x-axis indicates the number of cases included in the study; the P value for the strongest finding is plotted on the y-axis. When more than one statistical test was reported, only the one with the smallest P value is shown in this figure. In some cases, this inflated the actual statistical significance, because investigators rarely adjust their findings for these multiple tests when the findings are reported in a publication. This analysis shows clearly that most association findings have been drastically underpowered if periodontitis is assumed to be a complex disease. The majority (66%) of these association reports for chronic and aggressive periodontitis are based on samples of 100 cases or less, and 41% are based on less than 60 cases. As shown in Figure 6-4, studies of such small sample size have little power to detect a susceptibility gene that increases risk by twofold. Given the added concern about publication bias (i.e., that positive findings are more likely to be accepted for publication), we can have little confidence that even the more statistically significant findings are valid and likely to be independently replicated if they are based on such very inadequate samples sizes. With only a few exceptions, which are noted later in this chapter, publications since 2010 have continued to involve small numbers of cases and to provide marginal statistical support for association.

Aside from important lessons about how not to carry out association studies of a complex disease, there are some tentative conclusions that can be drawn from the data available thus far. Detailed results of our review and manual curation of 298 publications reporting association findings for periodontitis are presented in Table 6-3, and key findings are condensed in Table 6-4.

TABLE 6-3

Association Study

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Gene Symbol Disease Type Cases Total Best P Value Level of Support Population Study Design Stratified or Covariate Adj Gene Name Gene Aliases # SNPs Assayed SNP Name PubMed ID Journal
ABCA1 CP 22 41 ns None Japanese CC N ATP-binding cassette, sub-family A (ABC1), member 1 TGD; ABC1; CERP; ABC-1; HDLDT1; FLJ14958; MGC164864; MGC165011; ABCA1 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ABCA4 CP 22 41 ns None Japanese CC N ATP-binding cassette, sub-family A (ABC1), member 4 FFM; RMP; ABCR; RP19; STGD; ABC10; ARMD2; CORD3; STGD1; FLJ17534; DKFZp781N1972; ABCA4 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ABCB11 CP 22 41 ns None Japanese CC N ATP-binding cassette, sub-family B (MDR/TAP), member 11 BSEP; PGY4; SPGP; ABC16; BRIC2; PFIC2; PFIC-2; ABCB11 7 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ABCC6 CP 22 41 ns None Japanese CC N ATP-binding cassette, sub-family C (CFTR/MRP), member 6 ARA; PXE; MLP1; MRP6; PXE1; ABC34; MOATE; EST349056; ABCC6 9 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ABCC8 CP 22 41 ns None Japanese CC N ATP-binding cassette, sub-family C (CFTR/MRP), member 8 HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; TNDM2; ABCC8 8 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ABP1 CP 22 41 ns None Japanese CC N Amiloride binding protein 1 (amine oxidase (copper-containing)) ABP; AOC1; DAO; DAO1; KAO; ABP1 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ACACB CP 22 41 ns None Japanese CC N Acetyl-Coenzyme A (CoA) carboxylase beta ACC2; ACCB; HACC275; ACACB 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ACADL CP 22 41 ns None Japanese CC N Acyl-Coenzyme A dehydrogenase, long chain LCAD; ACAD4; FLJ94052; ACADL 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ACAN AgP+CP 251 376 ns None Japanese CC N Aggrecan AGC1; SEDK; AGCAN; CSPG1; MSK16; CSPGCP; ACAN n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
ACE AgP 103 203 ns None Turkish CC N Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 DCP; ACE1; DCP1; CD143; MVCD3; MGC26566; ACE 1 I/D 19162259 Gürkan A, Emingil G, Saygan BH, Atilla G, Köse T, Baylas H, Berdeli A. Angiotensin-converting enzyme (ACE), angiotensinogen (AGT), and angiotensin II type 1 receptor (AT1R) gene polymorphisms in generalized aggressive periodontitis. Arch Oral Biol. 2009 Apr;54(4):337-44. Epub 2009 Jan 21.
ACE CP 90 216 0.015 Weak Turkish CC N Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 DCP; ACE1; DCP1; CD143; MVCD3; MGC26566; ACE 1 I/D 19236533 Gürkan A, Emingil G, Saygan BH, Atilla G, Köse T, Baylas H, Berdeli A. Renin-angiotensin gene polymorphisms in relation to severe chronic periodontitis. J Clin Periodontol. 2009 Mar;36(3):204-11.
ACE CP 22 41 ns None Japanese CC N Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 DCP; ACE1; DCP1; CD143; MVCD3; MGC26566; ACE 5 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ACE CP 63 158 ns None Caucasian CC N Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 DCP; ACE1; DCP1; CD143; MVCD3; MGC26566; ACE 1 Intron 16 I/D 11210078 Hollá LI, Fassmann A, Vasku A, Znojil V, Vanek J, Vácha J. Interactions of lymphotoxin alpha (TNF-beta), angiotensin-converting enzyme (ACE), and endothelin-1 (ET-1) gene polymorphisms in adult periodontitis. J Periodontol. 2001 Jan;72(1):85-9.
ACE.LTA CP 63 158 0.0228 Weak Caucasian CC N n/a n/a 2 Multiple Genes 11210078 Hollá LI, Fassmann A, Vasku A, Znojil V, Vanek J, Vácha J. Interactions of lymphotoxin alpha (TNF-beta), angiotensin-converting enzyme (ACE), and endothelin-1 (ET-1) gene polymorphisms in adult periodontitis. J Periodontol. 2001 Jan;72(1):85-9.
ACE2 CP 22 41 ns None Japanese CC N Angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 ACEH; DKFZp434A014; ACE2 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ACSM3 CP 22 41 ns None Japanese CC N Acyl-CoA synthetase medium-chain family member 3 SA; SAH; ACSM3 4 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ADA CP 22 41 ns None Japanese CC N Adenosine deaminase ADA 5 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ADAMTS8 CP 22 41 ns None Japanese CC N ADAM metallopeptidase with thrombospondin type 1 motif, 8 METH2; ADAM-TS8; FLJ41712; ADAMTS8 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ADCY3 CP 22 41 ns None Japanese CC N Adenylate cyclase 3 AC3; KIAA0511; ADCY3 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ADCY6 CP 22 41 ns None Japanese CC N Adenylate cyclase 6 AC6; KIAA0422; DKFZp779F075; ADCY6 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ADCY9 CP 22 41 ns None Japanese CC N Adenylate cyclase 9 AC9; ADCY9 7 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ADD1 CP 22 41 ns None Japanese CC N Adducin 1 (alpha) ADDA; MGC3339; MGC44427; ADD1 6 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ADD2 CP 22 41 ns None Japanese CC N Adducin 2 (beta) ADDB; ADD2 6 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ADH1C CP 22 41 ns None Japanese CC N Alcohol dehydrogenase 1C (class I), gamma polypeptide ADH3; ADH1C 5 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ADO22 CP 22 41 ns None Japanese CC N n/a n/a 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ADORA2A CP 22 41 ns None Japanese CC N Adenosine A2a receptor RDC8; hA2aR; ADORA2; ADORA2A 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
AGER CP 101 263 0.02 Weak Caucasian CC N Advanced glycosylation end product-specific receptor RAGE; MGC22357; AGER 3 intron 7 (1704G/T) 11811511 Hollá LI, Kanková K, Fassmann A, Bucková D, Halabala T, Znojil V, Vanek J. Distribution of the receptor for advanced glycation end products gene polymorphisms in patients with chronic periodontitis: a preliminary study. J Periodontol. 2001 Dec;72(12):1742-6.
AGER CP 22 41 ns None Japanese CC N Advanced glycosylation end product-specific receptor RAGE; MGC22357; AGER 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
AGT AgP 103 203 0.004 Weak Turkish CC N Angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ANHU; FLJ92595; FLJ97926; SERPINA8; AGT 1 M235T 19162259 Gürkan A, Emingil G, Saygan BH, Atilla G, Köse T, Baylas H, Berdeli A. Angiotensin-converting enzyme (ACE), angiotensinogen (AGT), and angiotensin II type 1 receptor (AT1R) gene polymorphisms in generalized aggressive periodontitis. Arch Oral Biol. 2009 Apr;54(4):337-44. Epub 2009 Jan 21.
AGT CP 90 216 ns None Turkish CC N Angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ANHU; FLJ92595; FLJ97926; SERPINA8; AGT 1 M235T 19236533 Gürkan A, Emingil G, Saygan BH, Atilla G, Köse T, Baylas H, Berdeli A. Renin-angiotensin gene polymorphisms in relation to severe chronic periodontitis. J Clin Periodontol. 2009 Mar;36(3):204-11.
AGTR1 AgP 103 203 ns None Turkish CC N Angiotensin II receptor, type 1 AT1; AG2S; AT1B; AT1R; AT2R1; HAT1R; AGTR1A; AGTR1B; AT2R1A; AT2R1B; AGTR1 1 A1166C 19162259 Gürkan A, Emingil G, Saygan BH, Atilla G, Köse T, Baylas H, Berdeli A. Angiotensin-converting enzyme (ACE), angiotensinogen (AGT), and angiotensin II type 1 receptor (AT1R) gene polymorphisms in generalized aggressive periodontitis. Arch Oral Biol. 2009 Apr;54(4):337-44. Epub 2009 Jan 21.
AGTR1 CP 90 216 0.03 Weak Turkish CC N Angiotensin II receptor, type 1 AT1; AG2S; AT1B; AT1R; AT2R1; HAT1R; AGTR1A; AGTR1B; AT2R1A; AT2R1B; AGTR1 1 A1166C 19236533 Gürkan A, Emingil G, Saygan BH, Atilla G, Köse T, Baylas H, Berdeli A. Renin-angiotensin gene polymorphisms in relation to severe chronic periodontitis. J Clin Periodontol. 2009 Mar;36(3):204-11.
AIRE CP 22 41 ns None Japanese CC N Autoimmune regulator APS1; APSI; PGA1; AIRE1; APECED; AIRE 6 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ALCAM CP 22 41 ns None Japanese CC N Activated leukocyte cell adhesion molecule MEMD; CD166; FLJ38514; MGC71733; ALCAM 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ALDH2 CP 22 41 ns None Japanese CC N Aldehyde dehydrogenase 2 family (mitochondriAl) ALDM; ALDHI; ALDH-E2; MGC1806; ALDH2 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ALDH3A1 CP 22 41 ns None Japanese CC N Aldehyde dehydrogenase 3 family, member A1 ALDH3; ALDHIII; MGC10406; ALDH3A1 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ALDH3A2 CP 22 41 ns None Japanese CC N Aldehyde dehydrogenase 3 family, member A2 SLS; FALDH; ALDH10; FLJ20851; DKFZp686E23276; ALDH3A2 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ALOX15 CP 22 41 ns None Japanese CC N Arachidonate 15-lipoxygenase 15LOX-1; 15-LOX-1; ALOX15 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
AMACR CP 22 41 ns None Japanese CC N Alpha-methylacyl-CoA racemase RACE; CBAS4; AMACR 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
AMPD1 CP 22 41 ns None Japanese CC N Adenosine monophosphate deaminase 1 (isoform M) MAD; MADA; AMPD1 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
APOA4 CP 22 41 ns None Japanese CC N Apolipoprotein A-IV MGC142154; MGC142156; APOA4 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
APOH CP 22 41 ns None Japanese CC N Apolipoprotein H (beta-2-glycoprotein I) BG; B2G1; APOH 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
APOL1 CP 22 41 ns None Japanese CC N Apolipoprotein L, 1 APOL; APO-L; APOL-I; APOL1 4 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
AQP8 CP 22 41 ns None Japanese CC N Aquaporin 8 AQP8 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ART1 CP 22 41 ns None Japanese CC N ADP-ribosyltransferase 1 RT6; ART2; CD296; MGC133217; ART1 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ASIP CP 22 41 ns None Japanese CC N Agouti signaling protein, nonagouti homolog (mouse) ASP; AGSW; AGTI; AGTIL; SHEP9; MGC126092; MGC126093; ASIP 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
B3GNT3 CP 22 41 ns None Japanese CC N UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 TMEM3; B3GN-T3; B3GNT-3; HP10328; B3GAL-T8; beta3Gn-T3; B3GNT3 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
BAT1 CP&HIV 16 32 0.0002 Weak Caucasian CC G HLA-B associated transcript 1 UAP56; D6S81E; DDX39B; BAT1 1 HLA-B8 10551423 Price P, Calder DM, Witt CS, Allcock RJ, Christiansen FT, Davies GR, Cameron PU, Rogers M, Baluchova K, Moore CB, French MA. Periodontal attachment loss in HIV-infected patients is associated with the Major histocompatibility complex 8.1 haplotype (HLA-A1,B8,DR3). Tissue Antigens. 1999 Oct;54(4):391-9.
BDKRB1 CP 22 41 ns None Japanese CC N Bradykinin receptor B1 B1R; BKR1; B1BKR; BKB1R; BRADYB1; BDKRB1 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
BDKRB2 CP 22 41 ns None Japanese CC N Bradykinin receptor B2 B2R; BK2; BK-2; BKR2; BRB2; DKFZp686O088; BDKRB2 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
BMP2 AgP 98 186 ns None Japanese CC N Bone morphogenetic protein 2 BMP2A; BMP2 1 rs1049007 16844084 Rabello D, Soedarsono N, Kamei H, Ishihara Y, Noguchi T, Fuma D, Suzuki M, Sakaki Y, Yamaguchi A, Kojima T. CSF1 gene associated with aggressive periodontitis in the Japanese population. Biochem Biophys Res Commun. 2006 Sep 1;347(3):791-6. Epub 2006 Jul 7.
BMP3 AgP 98 186 ns None Japanese CC N Bone morphogenetic protein 3 BMP3A; BMP3 1 rs3733549 16844084 Rabello D, Soedarsono N, Kamei H, Ishihara Y, Noguchi T, Fuma D, Suzuki M, Sakaki Y, Yamaguchi A, Kojima T. CSF1 gene associated with aggressive periodontitis in the Japanese population. Biochem Biophys Res Commun. 2006 Sep 1;347(3):791-6. Epub 2006 Jul 7.
BMP4 AgP 98 186 ns None Japanese CC N Bone morphogenetic protein 4 ZYME; BMP2B; OFC11; BMP2B1; MCOPS6; BMP4 1 rs2071047 16844084 Rabello D, Soedarsono N, Kamei H, Ishihara Y, Noguchi T, Fuma D, Suzuki M, Sakaki Y, Yamaguchi A, Kojima T. CSF1 gene associated with aggressive periodontitis in the Japanese population. Biochem Biophys Res Commun. 2006 Sep 1;347(3):791-6. Epub 2006 Jul 7.
BMP7 AgP 98 186 ns None Japanese CC N Bone morphogenetic protein 7 OP-1; BMP7 6 Multiple SNPs 16844084 Rabello D, Soedarsono N, Kamei H, Ishihara Y, Noguchi T, Fuma D, Suzuki M, Sakaki Y, Yamaguchi A, Kojima T. CSF1 gene associated with aggressive periodontitis in the Japanese population. Biochem Biophys Res Commun. 2006 Sep 1;347(3):791-6. Epub 2006 Jul 7.
BMP8B CP 22 41 ns None Japanese CC N Bone morphogenetic protein 8b OP2; BMP8; MGC131757; BMP8B 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
BPI CP 123 255 ns None German CC N Bactericidal/permeability-increasing protein BPI 1 Lys216Glu 16893388 Glas J, Török HP, Tonenchi L, Hamann S, Malachova O, Euba A, Folwaczny C, Folwaczny M. A645G (Lys216Glu) polymorphism of the bactericidal/permeability-increasing protein gene in periodontal disease. Int J Immunogenet. 2006 Aug;33(4):255-60.
C5 AgP+CP 229 436 0.001 Weak Chinese CC AGS Complement Component 5 CPAMD4; FLJ17816; FLJ17822; MGC142298; C5 4 Haplotype 19909405 Chai L, Song YQ, Zee KY, Leung WK. Single nucleotide polymorphisms of complement component 5 and periodontitis. J Periodontal Res. 2009 Nov 9.
C5 AgP+CP 229 436 0.007 Weak Chinese CC AGS Complement Component 5 CPAMD4; FLJ17816; FLJ17822; MGC142298; C5 11 rs17611 19909405 Chai L, Song YQ, Zee KY, Leung WK. Single nucleotide polymorphisms of complement component 5 and periodontitis. J Periodontal Res. 2009 Nov 9.
C9 CP 22 41 ns None Japanese CC N Complement Component 9 C9 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CALCR CP 22 41 0.0039 Weak Japanese CC N Calcitonin receptor CRT; CTR; CTR1; CALCR 7 IMS-JST054515 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CASR CP 22 41 ns None Japanese CC N Calcium-sensing receptor CAR; FHH; FIH; HHC; EIG8; HHC1; NSHPT; PCAR1; GPRC2A; MGC138441; CASR 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CAT CP 22 41 ns None Japanese CC N Catalase MGC138422; MGC138424; CAT 5 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CCK CP 22 41 ns None Japanese CC N Cholecystokinin MGC117187; CCK 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CCKAR CP 22 41 ns None Japanese CC N Cholecystokinin A receptor CCK-A; CCKRA; CCK1-R; CCKAR 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CCL15 CP 22 41 ns None Japanese CC N Chemokine (C-C motif) ligand 15 LKN1; NCC3; SY15; HCC-2; Lkn-1; MIP-5; NCC-3; SCYL3; MIP-1d; SCYA15; HMRP-2B; CCL15 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CCL25 CP 22 41 ns None Japanese CC N Chemokine (C-C motif) ligand 25 TECK; Ckb15; SCYA25; MGC150327; CCL25 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CCL5 CP 106 175 ns None Caucasian CC S Chemokine (C-C motif) ligand 5 SISd; SCYA5; RANTES; TCP228; D17S136E; MGC17164; CCL5 1 −471 A/G 17305874 Savarrio L, Donati M, Carr C, Kinane DF, Berglundh T. Interleukin-24, RANTES and CCR5 gene polymorphisms are not associated with chronic adult periodontitis. J Periodontal Res. 2007 Apr;42(2):152-8.
CCR2 CP 22 41 ns None Japanese CC N Chemokine (C-C motif) receptor 2 CKR2; CCR2A; CCR2B; CD192; CKR2A; CKR2B; CMKBR2; MCP-1-R; CC-CKR-2; FLJ78302; MGC103828; MGC111760; MGC168006; CCR2 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CCR5 CP 106 175 ns None Caucasian CC S Chemokine (C-C motif) receptor 5 CKR5; CD195; CKR-5; CCCKR5; CMKBR5; IDDM22; CC-CKR-5; FLJ78003; CCR5 1 Delta32/wt 17305874 Savarrio L, Donati M, Carr C, Kinane DF, Berglundh T. Interleukin-24, RANTES and CCR5 gene polymorphisms are not associated with chronic adult periodontitis. J Periodontal Res. 2007 Apr;42(2):152-8.
CCR5 CP 137 219 ns None Caucasian CC GS Chemokine (C-C motif) receptor 5 CKR5; CD195; CKR-5; CCCKR5; CMKBR5; IDDM22; CC-CKR-5; FLJ78003; CCR5 1 59653 C>T 16512757 Wohlfahrt JC, Wu T, Hodges JS, Hinrichs JE, Michalowicz BS. No association between selected candidate gene polymorphisms and severe chronic periodontitis. J Periodontol. 2006 Mar;77(3):426-36.
CCR5 CP 22 41 ns None Japanese CC N Chemokine (C-C motif) receptor 5 CKR5; CD195; CKR-5; CCCKR5; CMKBR5; IDDM22; CC-CKR-5; FLJ78003; CCR5 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CCR5 CP 81 202 ns None Caucasian CC N Chemokine (C-C motif) receptor 5 CKR5; CD195; CKR-5; CCCKR5; CMKBR5; IDDM22; CC-CKR-5; FLJ78003; CCR5 1 Delta32/wt 14697747 Folwaczny M, Glas J, Török HP, Fricke K, Folwaczny C. Prevalence of the chemokine receptor CCR5-Delta32 gene mutation in periodontal disease. Clin Immunol. 2003 Dec;109(3):325-9.
CD14 AgP 73 153 ns None German CC N CD14 molecule CD14 1 −159 19046305 Schulz S, Zissler N, Altermann W, Klapproth J, Zimmermann U, Gläser C, Schaller HG, Reichert S. Impact of genetic variants of CD14 and TLR4 on subgingival periodontopathogens. Int J Immunogenet. 2008 Dec;35(6):457-64.
CD14 AgP 73 200 ns None Caucasian CC N CD14 molecule CD14 2 Multiple SNPs 17309585 James JA, Poulton KV, Haworth SE, Payne D, McKay IJ, Clarke FM, Hughes FJ, Linden GJ. Polymorphisms of TLR4 but not CD14 are associated with a decreased risk of aggressive periodontitis. J Clin Periodontol. 2007 Feb;34(2):111-7.
CD14 AgP+CP 133 213 ns None German CC N CD14 molecule CD14 1 −159 19046305 Schulz S, Zissler N, Altermann W, Klapproth J, Zimmermann U, Gläser C, Schaller HG, Reichert S. Impact of genetic variants of CD14 and TLR4 on subgingival periodontopathogens. Int J Immunogenet. 2008 Dec;35(6):457-64.
CD14 AgP+CP 319 622 ns None Japanese CC AGS CD14 molecule CD14 1 −159 19892918 Kobayashi T, Nagata T, Murakami S, Takashiba S, Kurihara H, Izumi Y, Numabe Y, Watanabe H, Kataoka M, Nagai A, Hayashi J, Ohyama H, Okamatsu Y, Inagaki Y, Tai H, Yoshie H. Genetic risk factors for periodontitis in a Japanese population. J Dent Res. 2009 Dec;88(12):1137-41.
CD14 CP 100 199 0.004 Weak Caucasian CC AGPS CD14 molecule CD14 1 −260 16246938 Laine ML, Morré SA, Murillo LS, van Winkelhoff AJ, Peña AS. CD14 and TLR4 gene polymorphisms in adult periodontitis. J Dent Res. 2005 Nov;84(11):1042-6.
CD14 CP 98 134 0.006 Weak Caucasian CC N CD14 molecule CD14 2 G-1359T 12414826 Holla LI, Buckova D, Fassmann A, Halabala T, Vasku A, Vacha J. Promoter polymorphisms in the CD14 receptor gene and their potential association with the severity of chronic periodontitis. J Med Genet. 2002 Nov;39(11):844-8.
CD14 CP 70 145 0.013 Weak German CC G CD14 molecule CD14 1 −159 15491315 Folwaczny M, Glas J, Török HP, Fricke K, Folwaczny C. The CD14 -159C-to-T promoter polymorphism in periodontal disease. J Clin Periodontol. 2004 Nov;31(11):991-5.
CD14 CP 51 229 0.022 Weak Caucasian CC GS CD14 molecule CD14 1 −260 17448042 Tervonen T, Raunio T, Knuuttila M, Karttunen R. Polymorphisms in the CD14 and IL-6 genes associated with periodontal disease. J Clin Periodontol. 2007 May;34(5):377-83.
CD14 CP 60 99 0.028 Weak Caucasian CC N CD14 molecule CD14 1 −159 15842262 Donati M, Berglundh T, Hytönen AM, Hahn-Zoric M, Hanson LA, Padyukov L. Association of the -159 CD14 gene polymorphism and lack of association of the -308 TNFA and Q551R IL-4RA polymorphisms with severe chronic periodontitis in Swedish Caucasians. J Clin Periodontol. 2005 May;32(5):474-9.
CD14 CP 56 84 ns None Finnish CC N CD14 molecule CD14 1 −260 19500269 Raunio T, Knuuttila M, Karttunen R, Vainio O, Tervonen T. Serum sCD14, polymorphism of CD14(-260) and periodontal infection. Oral Dis. 2009 Jun 4. [Epub ahead of print]
CD14 CP 105 162 ns None Caucasian CC N CD14 molecule CD14 1 −260 19318422 Nicu EA, Laine ML, Morré SA, Van der Velden U, Loos BG. Soluble CD14 in periodontitis. Innate Immun. 2009 Apr;15(2):121-8.
CD14 CP 60 140 ns None German CC N CD14 molecule CD14 1 −159 19046305 Schulz S, Zissler N, Altermann W, Klapproth J, Zimmermann U, Gläser C, Schaller HG, Reichert S. Impact of genetic variants of CD14 and TLR4 on subgingival periodontopathogens. Int J Immunogenet. 2008 Dec;35(6):457-64.
CD14 CP n/a 80 ns None Finnish Quan N CD14 molecule CD14 1 −260 19017034 Raunio T, Knuuttila M, Hiltunen L, Karttunen R, Vainio O, Tervonen T. IL-6(-174) genotype associated with the extent of periodontal disease in type 1 diabetic subjects. J Clin Periodontol. 2009 Jan;36(1):11-7. Epub 2008 Oct 31.
CD14 CP 95 189 ns None Caucasian CC N CD14 molecule CD14 2 Multiple SNPs 17309585 James JA, Poulton KV, Haworth SE, Payne D, McKay IJ, Clarke FM, Hughes FJ, Linden GJ. Polymorphisms of TLR4 but not CD14 are associated with a decreased risk of aggressive periodontitis. J Clin Periodontol. 2007 Feb;34(2):111-7.
CD14 CP 163 267 ns None Japanese CC N CD14 molecule CD14 1 −159 12885845 Yamazaki K, Ueki-Maruyama K, Oda T, Tabeta K, Shimada Y, Tai H, Nakajima T, Yoshie H, Herawati D, Seymour GJ. Single-nucleotide polymorphism in the CD14 promoter and periodontal disease expression in a Japanese population. J Dent Res. 2003 Aug;82(8):612-6.
CD14.IL6 CP 51 229 0.012 Weak Caucasian CC GS n/a n/a 2 Multiple Genes 17448042 Tervonen T, Raunio T, Knuuttila M, Karttunen R. Polymorphisms in the CD14 and IL-6 genes associated with periodontal disease. J Clin Periodontol. 2007 May;34(5):377-83.
CD14.TLR4 CP 51 229 ns None Caucasian CC GS n/a n/a 2 Multiple Genes 17448042 Tervonen T, Raunio T, Knuuttila M, Karttunen R. Polymorphisms in the CD14 and IL-6 genes associated with periodontal disease. J Clin Periodontol. 2007 May;34(5):377-83.
CD2 CP 22 41 ns None Japanese CC N CD2 molecule T11; SRBC; FLJ46032; CD2 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CD36 AgP+CP 251 376 ns None Japanese CC N CD36 molecule (thrombospondin receptor) FAT; GP4; GP3B; GPIV; CHDS7; PASIV; SCARB3; CD36 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
CD36 CP 22 41 ns None Japanese CC N CD36 molecule (thrombospondin receptor) FAT; GP4; GP3B; GPIV; CHDS7; PASIV; SCARB3; CD36 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CD4 CP 22 41 ns None Japanese CC N CD4 molecule CD4mut; CD4 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CD6 CP 22 41 ns None Japanese CC N CD6 molecule TP120; FLJ44171; CD6 4 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CD81 CP 22 41 ns None Japanese CC N CD81 molecule S5.7; TAPA1; TSPAN28; CD81 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CDKN2BAS AgP 159 895 0.00069 Moderate German CC DGS CDKN2B antisense RNA (non-protein coding) ANRIL; p15AS; NCRNA00089; RP11-145E5.4; CDKN2BAS 3 rs1333048 19214202 Schaefer AS, Richter GM, Groessner-Schreiber B, Noack B, Nothnagel M, El Mokhtari NE, Loos BG, Jepsen S, Schreiber S. Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. PLoS Genet. 2009 Feb;5(2):e1000378. Epub 2009 Feb 13.
CDKN2BAS AgP 146 514 0.0059 Weak German CC DGS CDKN2B antisense RNA (non-protein coding) ANRIL; p15AS; NCRNA00089; RP11-145E5.4; CDKN2BAS 3 rs1333048 19214202 Schaefer AS, Richter GM, Groessner-Schreiber B, Noack B, Nothnagel M, El Mokhtari NE, Loos BG, Jepsen S, Schreiber S. Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. PLoS Genet. 2009 Feb;5(2):e1000378. Epub 2009 Feb 13.
CHGB CP 22 41 ns None Japanese CC N Chromogranin B (secretogranin 1) SCG1; CHGB 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CHI3L1 CP 22 41 ns None Japanese CC N Chitinase 3-like 1 (cartilage glycoprotein-39) GP39; ASRT7; YKL40; YYL-40; HC-gp39; HCGP-3P; FLJ38139; DKFZp686N19119; CHI3L1 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
Chr19 Region CP 300 600 0.019 Weak Japanese CC N n/a n/a 13 rs11668269 19335087 Tabeta K, Shimada Y, Tai H, Ishihara Y, Noguchi T, Soga Y, Takashiba S, Suzuki G, Kobayashi T, Oka A, Kobayashi T, Yamazaki K, Inoko H, Yoshie H. Assessment of chromosome 19 for genetic association in severe chronic periodontitis. J Periodontol. 2009 Apr;80(4):663-71.
CKAP2L AgP 415 1289 ns None Caucasian CC N Cytoskeleton associated protein 2-like FLJ40629; MGC39683; CKAP2L 2 Multiple SNPs 18723088 Fiebig A, Jepsen S, Loos BG, Scholz C, Schäfer C, Rühling A, Nothnagel M, Eickholz P, van der Velden U, Schenck K, Schreiber S, Grössner-Schreiber B. Polymorphisms in the interleukin-1 (IL1) gene cluster are not associated with aggressive periodontitis in a large Caucasian population. Genomics. 2008 Nov;92(5):309-15. Epub 2008 Sep 18.
CKAP2L AgP 415 1289 ns None Caucasian CC N Cytoskeleton associated protein 2-like FLJ40629; MGC39683; CKAP2L 2 Haplotype 18723088 Fiebig A, Jepsen S, Loos BG, Scholz C, Schäfer C, Rühling A, Nothnagel M, Eickholz P, van der Velden U, Schenck K, Schreiber S, Grössner-Schreiber B. Polymorphisms in the interleukin-1 (IL1) gene cluster are not associated with aggressive periodontitis in a large Caucasian population. Genomics. 2008 Nov;92(5):309-15. Epub 2008 Sep 18.
COL12A1 AgP+CP 251 376 ns None Japanese CC N Collagen, type XII, alpha 1 COL12A1L; BA209D8.1; DJ234P15.1; COL12A1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL15A1 AgP+CP 251 376 ns None Japanese CC N Collagen, type XV, alpha 1 FLJ38566; COL15A1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL16A1 AgP+CP 251 376 ns None Japanese CC N Collagen, type XVI, alpha 1 447AA; FP1572; COL16A1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL17A1 AgP+CP 251 376 0.008 Weak Japanese CC N Collagen, type XVII, alpha 1 BP180; BPAG2; LAD-1; FLJ60881; KIAA0204; BA16H23.2; COL17A1 n/a Chr:10 C/T 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL18A1 AgP+CP 251 376 ns None Japanese CC N Collagen, type XVIII, alpha 1 KNO; KNO1; FLJ27325; FLJ34914; MGC74745; COL18A1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL19A1 AgP+CP 251 376 ns None Japanese CC N Collagen, type XIX, alpha 1 COL9A1L; D6S228E; COL19A1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL1A1 AgP 46 136 ns None Greek CC N Collagen, type I, alpha 1 OI4; COL1A1 1 Sp1 16911569 Sakellari D, Katsares V, Georgiadou M, Kouvatsi A, Arsenakis M, Konstantinidis A. No correlation of five gene polymorphisms with periodontal conditions in a Greek population. J Clin Periodontol. 2006 Nov;33(11):765-70. Epub 2006 Aug 14.
COL1A1 AgP+CP 251 376 0.003 Weak Japanese CC N Collagen, type I, alpha 1 OI4; COL1A1 n/a Chr:17 A/C 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL1A1 CP 56 146 ns None Greek CC N Collagen, type I, alpha 1 OI4; COL1A1 1 Sp1 16911569 Sakellari D, Katsares V, Georgiadou M, Kouvatsi A, Arsenakis M, Konstantinidis A. No correlation of five gene polymorphisms with periodontal conditions in a Greek population. J Clin Periodontol. 2006 Nov;33(11):765-70. Epub 2006 Aug 14.
COL1A2 AgP+CP 251 376 ns None Japanese CC N Collagen, type I, alpha 2 OI4; COL1A2 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL2A1 AgP+CP 251 376 ns None Japanese CC N Collagen, type II, alpha 1 AOM; ANFH; SEDC; COL11A3; MGC131516; COL2A1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL3A1 AgP+CP 251 376 ns None Japanese CC N Collagen, type III, alpha 1 EDS4A; FLJ34534; COL3A1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL4A1 AgP+CP 251 376 0.003 Weak Japanese CC N Collagen, type IV, alpha 1 arresten; COL4A1 n/a Chr:13 T/C 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL4A3 AgP+CP 251 376 ns None Japanese CC N Collagen, type IV, alpha 3 (Goodpasture antigen) COL4A3 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL4A4 AgP+CP 251 376 ns None Japanese CC N Collagen, type IV, alpha 4 CA44; COL4A4 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL5A3 AgP+CP 251 376 ns None Japanese CC N Collagen, type V, alpha 3 COL5A3 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL6A2 AgP+CP 251 376 ns None Japanese CC N Collagen, type VI, alpha 2 PP3610; FLJ46862; DKFZp586E1322; COL6A2 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL6A3 AgP+CP 251 376 ns None Japanese CC N Collagen, type VI, alpha 3 FLJ34702; FLJ98399; DKFZp686N0262; DKFZp686D23123; DKFZp686K04147; COL6A3 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL7A1 AgP+CP 251 376 ns None Japanese CC N Collagen, type VII, alpha 1 EBD1; EBR1; EBDCT; COL7A1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL8A1 AgP+CP 251 376 ns None Japanese CC N Collagen, type VIII, alpha 1 C3orf7; MGC9568; COL8A1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL9A1 AgP+CP 251 376 ns None Japanese CC N Collagen, type IX, alpha 1 MED; EDM6; FLJ40263; DJ149L1.1.2; COL9A1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COL9A2 AgP+CP 251 376 ns None Japanese CC N Collagen, type IX, alpha 2 MED; EDM2; DJ39G22.4; COL9A2 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
COLQ AgP+CP 251 376 ns None Japanese CC N Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase EAD; FLJ55041; COLQ n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
CSF1 AgP 98 186 0.024698 Weak Japanese CC N Colony stimulating factor 1 (macrophage) MCSF; MGC31930; CSF1 5 G/T 16844084 Rabello D, Soedarsono N, Kamei H, Ishihara Y, Noguchi T, Fuma D, Suzuki M, Sakaki Y, Yamaguchi A, Kojima T. CSF1 gene associated with aggressive periodontitis in the Japanese population. Biochem Biophys Res Commun. 2006 Sep 1;347(3):791-6. Epub 2006 Jul 7.
CST1 CP 22 41 ns None Japanese CC N Cystatin SN CST1 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CST5 CP 22 41 ns None Japanese CC N Cystatin D MGC71922; CST5 5 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CTF2 CP 22 41 ns None Japanese CC N n/a n/a 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CTLA4 CP 137 219 ns None Caucasian CC GS Cytotoxic T-lymphoCyte-associated protein 4 CD; GSE; ICOS; CD152; CTLA-4; IDDM12; CELIAC3; CTLA4 1 49 A>G 16512757 Wohlfahrt JC, Wu T, Hodges JS, Hinrichs JE, Michalowicz BS. No association between selected candidate gene polymorphisms and severe chronic periodontitis. J Periodontol. 2006 Mar;77(3):426-36.
CTSB AgP+CP 251 376 ns None Japanese CC N Cathepsin B APPS; CPSB; CTSB n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
CTSB CP 22 41 ns None Japanese CC N Cathepsin B APPS; CPSB; CTSB 4 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CTSC AgP 110 188 0.034 Weak German CC N Cathepsin C JP; HMS; JPD; PLS; CPPI; DPP1; DPPI; PALS; CTSC 5 p.I453V 18809751 Noack B, Görgens H, Hempel U, Fanghänel J, Hoffmann T, Ziegler A, Schackert HK. Cathepsin C gene variants in aggressive periodontitis. J Dent Res. 2008 Oct;87(10):958-63.
CTSC PPP 3 7 ns None n/a Fam N Cathepsin C JP; HMS; JPD; PLS; CPPI; DPP1; DPPI; PALS; CTSC 3 Multiple SNPs 14974080 Hewitt C, McCormick D, Linden G, Turk D, Stern I, Wallace I, Southern L, Zhang L, Howard R, Bullon P, Wong M, Widmer R, Gaffar KA, Awawdeh L, Briggs J, Yaghmai R, Jabs EW, Hoeger P, Bleck O, Rüdiger SG, Petersilka G, Battino M, Brett P, Hattab F, Al-Hamed M, Sloan P, Toomes C, Dixon M, James J, Read AP, Thakker N. The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis. Hum Mutat. 2004 Mar;23(3):222-8.
CTSC PPP 4 60 sig Weak Jordanian Fam N Cathepsin C JP; HMS; JPD; PLS; CPPI; DPP1; DPPI; PALS; CTSC 1 1040A->G 10662808 Hart TC, Hart PS, Michalec MD, Zhang Y, Marazita ML, Cooper M, Yassin OM, Nusier M, Walker S. Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. J Med Genet. 2000 Feb;37(2):95-101.
CTSC PPP 14 14 sig Weak Jordanian Fam N Cathepsin C JP; HMS; JPD; PLS; CPPI; DPP1; DPPI; PALS; CTSC 1 1040A-G 10662808 Hart TC, Hart PS, Michalec MD, Zhang Y, Marazita ML, Cooper M, Yassin OM, Nusier M, Walker S. Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. J Med Genet. 2000 Feb;37(2):95-101.
CTSD AgP+CP 251 376 0.0007 Moderate Japanese CC N Cathepsin D CPSD; CLN10; MGC2311; CTSD n/a Chr:11 C/T 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
CTSD CP 22 41 ns None Japanese CC N Cathepsin D CPSD; CLN10; MGC2311; CTSD 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CTSG AgP+CP 251 376 ns None Japanese CC N Cathepsin G CG; MGC23078; CTSG n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
CTSH AgP+CP 251 376 ns None Japanese CC N Cathepsin H CPSB; ACC-4; ACC-5; MGC1519; minichain; DKFZp686B24257; CTSH n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
CTSL1 AgP+CP 251 376 ns None Japanese CC N Cathepsin L1 MEP; CATL; CTSL; FLJ31037; CTSL1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
CYBA AgP 224 455 0.002 Weak Mixed CC EGS Cytochrome b-245, alpha polypeptide p22-PHOX; CYBA 1 C242T 16899095 Nibali L, Parkar M, Brett P, Knight J, Tonetti MS, Griffiths GS. NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis: a case-control association study. J Clin Periodontol. 2006 Aug;33(8):529-39.
CYBA CP 22 41 ns None Japanese CC N Cytochrome b-245, alpha polypeptide p22-PHOX; CYBA 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CYBA.FCGR3B AgP 224 455 0.001 Weak Mixed CC EGS n/a n/a 2 Multiple Genes 16899095 Nibali L, Parkar M, Brett P, Knight J, Tonetti MS, Griffiths GS. NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis: a case-control association study. J Clin Periodontol. 2006 Aug;33(8):529-39.
CYP1A1 CP 115 241 0.009 Weak Korean CC S Cytochrome P450, family 1, subfamily A, polypeptide 1 AHH; AHRR; CP11; CYP1; P1-450; P450-C; P450DX; CYP1A1 1 Msp1 15491310 Kim JS, Park JY, Chung WY, Choi MA, Cho KS, Park KK. Polymorphisms in genes coding for enzymes metabolizing smoking-derived substances and the risk of periodontitis. J Clin Periodontol. 2004 Nov;31(11):959-64.
CYP21A2 CP 22 41 ns None Japanese CC N Cytochrome P450, family 21, subfamily A, polypeptide 2 CAH1; CPS1; CA21H; CYP21; CYP21B; P450c21B; MGC150536; MGC150537; CYP21A2 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CYP2E1 CP 115 241 0.05 Weak Korean CC S Cytochrome P450, family 2, subfamily E, polypeptide 1 CPE1; CYP2E; P450-J; P450C2E; CYP2E1 1 Pst1 15491310 Kim JS, Park JY, Chung WY, Choi MA, Cho KS, Park KK. Polymorphisms in genes coding for enzymes metabolizing smoking-derived substances and the risk of periodontitis. J Clin Periodontol. 2004 Nov;31(11):959-64.
CYP4B1 CP 22 41 ns None Japanese CC N Cytochrome P450, family 4, subfamily B, polypeptide 1 CYPIVB1; P-450HP; CYP4B1 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
CYP4F2 CP 22 41 ns None Japanese CC N Cytochrome P450, family 4, subfamily F, polypeptide 2 CPF2; CYP4F2 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
DEFB1 AgP 532 2004 0.02 Weak Caucasian CC SD Defensin, beta 1 D1; HBD1; DEFB-1; DEFB101; MGC51822; DEFB1 12 Multiple SNPs 19829306 Schaefer AS, Richter GM, Nothnagel M, Laine ML, Rühling A, Schäfer C, Cordes N, Noack B, Folwaczny M, Glas J, Dörfer C, Dommisch H, Groessner-Schreiber B, Jepsen S, Loos BG, Schreiber S. A 3’ UTR transition within DEFB1 is associated with chronic and aggressive periodontitis. Genes Immun. 2009 Oct 15. [Epub ahead of print]
DEFB1 AgP 120 280 ns None Mixed CC N Defensin, beta 1 D1; HBD1; DEFB-1; DEFB101; MGC51822; DEFB1 1 −44 15242954 Boniotto M, Hazbón MH, Jordan WJ, Lennon GP, Eskdale J, Alland D, Gallagher G. Novel hairpin-shaped primer assay to study the association of the -44 single-nucleotide polymorphism of the DEFB1 gene with early-onset periodontal disease. Clin Diagn Lab Immunol. 2004 Jul;11(4):766-9.
DEFB1 AgP+CP 1337 3128 0.002 Weak Caucasian CC SD Defensin, beta 1 D1; HBD1; DEFB-1; DEFB101; MGC51822; DEFB1 12 Multiple SNPs 19829306 Schaefer AS, Richter GM, Nothnagel M, Laine ML, Rühling A, Schäfer C, Cordes N, Noack B, Folwaczny M, Glas J, Dörfer C, Dommisch H, Groessner-Schreiber B, Jepsen S, Loos BG, Schreiber S. A 3’ UTR transition within DEFB1 is associated with chronic and aggressive periodontitis. Genes Immun. 2009 Oct 15. [Epub ahead of print]
DEFB1 CP 805 1124 0.02 Weak Caucasian CC SD Defensin, beta 1 D1; HBD1; DEFB-1; DEFB101; MGC51822; DEFB1 12 Multiple SNPs 19829306 Schaefer AS, Richter GM, Nothnagel M, Laine ML, Rühling A, Schäfer C, Cordes N, Noack B, Folwaczny M, Glas J, Dörfer C, Dommisch H, Groessner-Schreiber B, Jepsen S, Loos BG, Schreiber S. A 3’ UTR transition within DEFB1 is associated with chronic and aggressive periodontitis. Genes Immun. 2009 Oct 15. [Epub ahead of print]
DEFB1 CP 137 219 ns None Caucasian CC GS Defensin, beta 1 D1; HBD1; DEFB-1; DEFB101; MGC51822; DEFB1 1 692 G>A 16512757 Wohlfahrt JC, Wu T, Hodges JS, Hinrichs JE, Michalowicz BS. No association between selected candidate gene polymorphisms and severe chronic periodontitis. J Periodontol. 2006 Mar;77(3):426-36.
DEFB1 CP 22 41 ns None Japanese CC N Defensin, beta 1 D1; HBD1; DEFB-1; DEFB101; MGC51822; DEFB1 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
DPP4 CP 22 41 0.006 Weak Japanese CC N Dipeptidyl-peptidase 4 CD26; ADABP; ADCP2; DPPIV; TP103; DPP4 7 IMS-JST022880 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ECE1 CP 22 41 ns None Japanese CC N Endothelin converting enzyme 1 ECE; ECE1 7 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ECH1 CP 22 41 ns None Japanese CC N Enoyl Coenzyme A hydratase 1, peroxisomal HPXEL; ECH1 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
EDN1 CP 22 41 ns None Japanese CC N Endothelin 1 ET1; HDLCQ7; EDN1 4 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
EDN1 CP 63 158 ns None Caucasian CC N Endothelin 1 ET1; HDLCQ7; EDN1 1 Intron4 TaqI 11210078 Hollá LI, Fassmann A, Vasku A, Znojil V, Vanek J, Vácha J. Interactions of lymphotoxin alpha (TNF-beta), angiotensin-converting enzyme (ACE), and endothelin-1 (ET-1) gene polymorphisms in adult periodontitis. J Periodontol. 2001 Jan;72(1):85-9.
EDN1.LTA CP 63 158 0.0472 Weak Caucasian CC N n/a n/a 2 Multiple Genes 11210078 Hollá LI, Fassmann A, Vasku A, Znojil V, Vanek J, Vácha J. Interactions of lymphotoxin alpha (TNF-beta), angiotensin-converting enzyme (ACE), and endothelin-1 (ET-1) gene polymorphisms in adult periodontitis. J Periodontol. 2001 Jan;72(1):85-9.
EDN3 CP 22 41 ns None Japanese CC N Endothelin 3 ET3; MGC15067; MGC61498; EDN3 4 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
EGF AgP+CP 251 376 0.004 Weak Japanese CC N Epidermal growth factor (beta-urogastrone) URG; HOMG4; EGF n/a Chr:4 A/G 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
EGF CP 22 41 ns None Japanese CC N Epidermal growth factor (beta-urogastrone) URG; HOMG4; EGF 10 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
EGFR AgP+CP 251 376 ns None Japanese CC N Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) ERBB; HER1; mENA; ERBB1; PIG61; EGFR n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
EIF2AK2 CP 22 41 ns None Japanese CC N Eukaryotic translation initiation factor 2-alpha kinase 2 PKR; PRKR; EIF2AK1; MGC126524; EIF2AK2 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ELN AgP+CP 251 376 ns None Japanese CC N Elastin WS; WBS; SVAS; FLJ38671; FLJ43523; ELN n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
EMR1 CP 22 41 ns None Japanese CC N EGF-like module containing, mucin-like, hormone receptor-like 1 TM7LN3; EMR1 4 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ENTPD6 AgP+CP 251 376 ns None Japanese CC N Ectonucleoside triphosphate diphosphohydrolase 6 (putative function) CD39L2; IL6ST2; IL-6SAG; FLJ36711; NTPDase-6; dJ738P15.3; DKFZp781G2277; DKFZp781K21102; ENTPD6 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
EPHX1 CP 22 41 ns None Japanese CC N Epoxide hydrolase 1, microsomal (xenobiotic) MEH; EPHX; EPOX; EPHX1 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
EPYC AgP+CP 251 376 ns None Japanese CC N Epiphycan PGLB; DSPG3; Pg-Lb; SLRR3B; EPYC n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
ERAP1 CP 22 41 ns None Japanese CC N Endoplasmic reticulum aminopeptidase 1 ALAP; A-LAP; ARTS1; ERAAP; APPILS; ARTS-1; ERAAP1; PILSAP; PILS-AP; KIAA0525; ERAP1 4 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ESR1 AgP 90 181 ns None Chinese CC G Estrogen receptor 1 ER; ESR; Era; ESRA; NR3A1; DKFZp686N23123; ESR1 2 Multiple SNPs 15324358 Zhang L, Meng H, Zhao H, Li Q, Xu L, Chen Z, Shi D, Feng X. Estrogen receptor-alpha gene polymorphisms in patients with periodontitis. J Periodontal Res. 2004 Oct;39(5):362-6.
ESR1 AgP n/a n/a sig Weak Chinese CC N Estrogen receptor 1 ER; ESR; Era; ESRA; NR3A1; DKFZp686N23123; ESR1 1 n/a 19031816 Wang HY, Pan YP. [Screening and analysis of multi-alleles in generalized aggressive periodontitis]. Zhonghua Kou Qiang Yi Xue Za Zhi. 2008 Jul;43(7):406-9. Chinese.
ESR1 CP 34 125 <0.01 Weak Chinese CC G Estrogen receptor 1 ER; ESR; Era; ESRA; NR3A1; DKFZp686N23123; ESR1 2 XbaI 15324358 Zhang L, Meng H, Zhao H, Li Q, Xu L, Chen Z, Shi D, Feng X. Estrogen receptor-alpha gene polymorphisms in patients with periodontitis. J Periodontal Res. 2004 Oct;39(5):362-6.
ESR1 CP n/a n/a sig Weak Chinese CC N Estrogen receptor 1 ER; ESR; Era; ESRA; NR3A1; DKFZp686N23123; ESR1 2 XbaI 18846948 Wang HY, Pan YP, Teng D, Zhao J, Lin L. [The relativity between chronic periodontitis and the genetic polymorphisms of vitamin D receptor and estrogen receptor]. Zhonghua Kou Qiang Yi Xue Za Zhi. 2008 Apr;43(4):236-9. Chinese.
ESR2 CP 22 41 ns None Japanese CC N Estrogen receptor 2 (ER beta) Erb; ESRB; ESTRB; NR3A2; ER-BETA; ESR-BETA; ESR2 5 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
ETFA CP 22 41 ns None Japanese CC N Electron-transfer-flavoprotein, alpha polypeptide EMA; GA2; MADD; ETFA 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
F5 CP 22 41 ns None Japanese CC N Coagulation factor V (proaccelerin, labile factor) FVL; PCCF; F5 6 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
FABP2 CP 22 41 ns None Japanese CC N Fatty acid binding protein 2, intestinal FABPI; I-FABP; MGC133132; FABP2 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
FABP7 CP 22 41 ns None Japanese CC N Fatty acid binding protein 7, brain MRG; BLBP; FABPB; B-FABP; DKFZp547J2313; FABP7 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
FAS CP 22 41 ns None Japanese CC N Fas (TNF receptor superfamily, member 6) APT1; CD95; FAS1; APO-1; FASTM; ALPS1A; TNFRSF6; FAS 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
FASLG CP 137 219 ns None Caucasian CC GS Fas ligand (TNF superfamily, member 6) FASL; CD178; CD95L; TNFSF6; APT1LG1; FASLG 1 −844 C>T 16512757 Wohlfahrt JC, Wu T, Hodges JS, Hinrichs JE, Michalowicz BS. No association between selected candidate gene polymorphisms and severe chronic periodontitis. J Periodontol. 2006 Mar;77(3):426-36.
FASLG CP 22 41 ns None Japanese CC N Fas ligand (TNF superfamily, member 6) FASL; CD178; CD95L; TNFSF6; APT1LG1; FASLG 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
FBP1 CP 22 41 ns None Japanese CC N Fructose-1,6-bisphosphatase 1 FBP; FBP1 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
FCAR AgP 46 126 0.014 Weak Japanese CC N Fc fragment of IgA, receptor for CD89; FCAR 1 nt 324 A/G 15140034 Kaneko S, Kobayashi T, Yamamoto K, Jansen MD, van de Winkel JG, Yoshie H. A novel polymorphism of FcalphaRI (CD89) associated with aggressive periodontitis. Tissue Antigens. 2004 Jun;63(6):572-7.
FCAR AgP 46 126 0.014 Weak Japanese CC N Fc fragment of IgA, receptor for CD89; FCAR 1 nt 324 A/G 15140034 Kaneko S, Kobayashi T, Yamamoto K, Jansen MD, van de Winkel JG, Yoshie H. A novel polymorphism of FcalphaRI (CD89) associated with aggressive periodontitis. Tissue Antigens. 2004 Jun;63(6):572-7.
FCAR AgP 224 455 ns None Mixed CC EGS Fc fragment of IgA, receptor for CD89; FCAR 1 324 A-G 16899095 Nibali L, Parkar M, Brett P, Knight J, Tonetti MS, Griffiths GS. NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis: a case-control association study. J Clin Periodontol. 2006 Aug;33(8):529-39.
FCAR AgP+CP 319 622 ns None Japanese CC AGS Fc fragment of IgA, receptor for CD89; FCAR 2 n/a 19892918 Kobayashi T, Nagata T, Murakami S, Takashiba S, Kurihara H, Izumi Y, Numabe Y, Watanabe H, Kataoka M, Nagai A, Hayashi J, Ohyama H, Okamatsu Y, Inagaki Y, Tai H, Yoshie H. Genetic risk factors for periodontitis in a Japanese population. J Dent Res. 2009 Dec;88(12):1137-41.
FCAR CP 113 221 ns None Japanese CC N Fc fragment of IgA, receptor for CD89; FCAR 2 Multiple SNPs 18321309 Komatsu Y, Galicia JC, Kobayashi T, Yamazaki K, Yoshie H. Association of interleukin-1 receptor antagonist +2018 gene polymorphism with Japanese chronic periodontitis patients using a novel genotyping method. Int J Immunogenet. 2008 Apr;35(2):165-70.
FCAR.TGFB1 CP 113 221 ns None Japanese CC N n/a n/a 3 Multiple Genes 18321309 Komatsu Y, Galicia JC, Kobayashi T, Yamazaki K, Yoshie H. Association of interleukin-1 receptor antagonist +2018 gene polymorphism with Japanese chronic periodontitis patients using a novel genotyping method. Int J Immunogenet. 2008 Apr;35(2):165-70.
FCGR2A AgP 12 73 0.013 Weak Caucasian CC S Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 12834496 Loos BG, Leppers-Van de Straat FG, Van de Winkel JG, Van der Velden U. Fcgamma receptor polymorphisms in relation to periodontitis. J Clin Periodontol. 2003 Jul;30(7):595-602.
FCGR2A AgP 20 72 ns None Polish CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 CD32 19127818 Drozdzik A. [The effect of environmental and genetic factors in the pathogenesis of periodontitis]. Ann Acad Med Stetin. 2008;54(1):118-26. Polish.
FCGR2A AgP 224 455 ns None Mixed CC EGS Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 494 A/G 16899095 Nibali L, Parkar M, Brett P, Knight J, Tonetti MS, Griffiths GS. NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis: a case-control association study. J Clin Periodontol. 2006 Aug;33(8):529-39.
FCGR2A AgP 31 80 ns None Brazilian CC EG Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 16805673 de Souza RC, Colombo AP. Distribution of FcgammaRIIa and FcgammaRIIIb genotypes in patients with generalized aggressive periodontitis. J Periodontol. 2006 Jul;77(7):1120-8.
FCGR2A AgP 32 104 ns None Japanese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 n/a 14647193 Yasuda K, Sugita N, Kobayashi T, Yamamoto K, Yoshie H. FcgammaRIIB gene polymorphisms in Japanese periodontitis patients. Genes Immun. 2003 Dec;4(8):541-6.
FCGR2A AgP 33 60 ns None Chinese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 n/a 11776881 Fu Y, Cao C, Wang S. [Relevance of Fc gamma R polymorphism to the susceptibility of early-onset periodontitis]. Zhonghua Kou Qiang Yi Xue Za Zhi. 1999 Nov;34(6):364-6. Chinese.
FCGR2A AgP 38 142 ns None Japanese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 11022771 Kobayashi T, Sugita N, van der Pol WL, Nunokawa Y, Westerdaal NA, Yamamoto K, van de Winkel JG, Yoshie H. The Fcgamma receptor genotype as a risk factor for generalized early-onset periodontitis in Japanese patients. J Periodontol. 2000 Sep;71(9):1425-32.
FCGR2A AgP 48 115 ns None African American CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A n/a 131H/R 12027254 Fu Y, Korostoff JM, Fine DH, Wilson ME. Fc gamma receptor genes as risk markers for localized aggressive periodontitis in African-Americans. J Periodontol. 2002 May;73(5):517-23.
FCGR2A AgP+CP 319 622 ns None Japanese CC AGS Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 R131/H131 19892918 Kobayashi T, Nagata T, Murakami S, Takashiba S, Kurihara H, Izumi Y, Numabe Y, Watanabe H, Kataoka M, Nagai A, Hayashi J, Ohyama H, Okamatsu Y, Inagaki Y, Tai H, Yoshie H. Genetic risk factors for periodontitis in a Japanese population. J Dent Res. 2009 Dec;88(12):1137-41.
FCGR2A CP 213 422 0.03 Weak Caucasian CC AGS Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 15152814 Yamamoto K, Kobayashi T, Grossi S, Ho AW, Genco RJ, Yoshie H, De Nardin E. Association of Fcgamma receptor IIa genotype with chronic periodontitis in Caucasians. J Periodontol. 2004 Apr;75(4):517-22.
FCGR2A CP 166 246 <0.0125 Weak Chinese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 15190804 Tang Y, Zhang JC, Zhang WH, Pang RY. [The association between Fc gamma receptor IIA gene polymorphism and susceptibility to chronic periodontitis in Chinese Han nationality]. Hua Xi Kou Qiang Yi Xue Za Zhi. 2004 Apr;22(2):158-61. Chinese.
FCGR2A CP 132 205 <0.05 Weak Caucasian CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 16889631 Wolf DL, Neiderud AM, Hinckley K, Dahlén G, van de Winkel JG, Papapanou PN. Fcgamma receptor polymorphisms and periodontal status: a prospective follow-up study. J Clin Periodontol. 2006 Oct;33(10):691-8. Epub 2006 Aug 3.
FCGR2A CP 32 84 ns None Polish CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 CD32 19127818 Drozdzik A. [The effect of environmental and genetic factors in the pathogenesis of periodontitis]. Ann Acad Med Stetin. 2008;54(1):118-26. Polish.
FCGR2A CP 113 221 ns None Japanese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 18321309 Komatsu Y, Galicia JC, Kobayashi T, Yamazaki K, Yoshie H. Association of interleukin-1 receptor antagonist +2018 gene polymorphism with Japanese chronic periodontitis patients using a novel genotyping method. Int J Immunogenet. 2008 Apr;35(2):165-70.
FCGR2A CP 100 200 ns None Japanese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 nt 559 G/T 18052703 Kobayashi T, Ito S, Kuroda T, Yamamoto K, Sugita N, Narita I, Sumida T, Gejyo F, Yoshie H. The interleukin-1 and Fcgamma receptor gene polymorphisms in Japanese patients with rheumatoid arthritis and periodontitis. J Periodontol. 2007 Dec;78(12):2311-8.
FCGR2A CP 50 124 ns None Taiwanese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 14761117 Chung HY, Lu HC, Chen WL, Lu CT, Yang YH, Tsai CC. Gm (23) allotypes and Fcgamma receptor genotypes as risk factors for various forms of periodontitis. J Clin Periodontol. 2003 Nov;30(11):954-60.
FCGR2A CP 72 144 ns None Japanese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 n/a 14647193 Yasuda K, Sugita N, Kobayashi T, Yamamoto K, Yoshie H. FcgammaRIIB gene polymorphisms in Japanese periodontitis patients. Genes Immun. 2003 Dec;4(8):541-6.
FCGR2A CP 56 117 ns None Caucasian CC S Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 12834496 Loos BG, Leppers-Van de Straat FG, Van de Winkel JG, Van der Velden U. Fcgamma receptor polymorphisms in relation to periodontitis. J Clin Periodontol. 2003 Jul;30(7):595-602.
FCGR2A CP 89 153 ns None Japanese CC S Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 11699473 Kobayashi T, Yamamoto K, Sugita N, van der Pol WL, Yasuda K, Kaneko S, van de Winkel JG, Yoshie H. The Fc gamma receptor genotype as a severity factor for chronic periodontitis in Japanese patients. J Periodontol. 2001 Oct;72(10):1324-31.
FCGR2A CP 49 98 ns None German CC AS Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 11528518 Meisel P, Carlsson LE, Sawaf H, Fanghaenel J, Greinacher A, Kocher T. Polymorphisms of Fc gamma-receptors RIIa, RIIIa, and RIIIb in patients with adult periodontal diseases. Genes Immun. 2001 Aug;2(5):258-62.
FCGR2A CP 83 187 ns None Japanese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 11022771 Kobayashi T, Sugita N, van der Pol WL, Nunokawa Y, Westerdaal NA, Yamamoto K, van de Winkel JG, Yoshie H. The Fcgamma receptor genotype as a risk factor for generalized early-onset periodontitis in Japanese patients. J Periodontol. 2000 Sep;71(9):1425-32.
FCGR2A CP 100 205 ns None Japanese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 9284119 Kobayashi T, Westerdaal NA, Miyazaki A, van der Pol WL, Suzuki T, Yoshie H, van de Winkel JG, Hara K. Relevance of immunoglobulin G Fc receptor polymorphism to recurrence of adult periodontitis in Japanese patients. Infect Immun. 1997 Sep;65(9):3556-60.
FCGR2A CP 86 113 ns None n/a CC S Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 R131H 9667480 Colombo AP, Eftimiadi C, Haffajee AD, Cugini MA, Socransky SS. Serum IgG2 level, Gm(23) allotype and FcgammaRIIa and FcgammaRIIIb receptors in refractory periodontal disease. J Clin Periodontol. 1998 Jun;25(6):465-74.
FCGR2A CP&RA 86 186 ns None Japanese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 nt 559 G/T 18052703 Kobayashi T, Ito S, Kuroda T, Yamamoto K, Sugita N, Narita I, Sumida T, Gejyo F, Yoshie H. The interleukin-1 and Fcgamma receptor gene polymorphisms in Japanese patients with rheumatoid arthritis and periodontitis. J Periodontol. 2007 Dec;78(12):2311-8.
FCGR2A CP&SLE 42 84 0.0013 Weak Japanese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 12710759 Kobayashi T, Ito S, Yamamoto K, Hasegawa H, Sugita N, Kuroda T, Kaneko S, Narita I, Yasuda K, Nakano M, Gejyo F, Yoshie H. Risk of periodontitis in systemic lupus erythematosus is associated with Fcgamma receptor polymorphisms. J Periodontol. 2003 Mar;74(3):378-84.
FCGR2A CP&SLE 42 60 0.011 Weak Japanese CC N Fc fragment of IgG, low affinity IIa, receptor (CD32) CD32; FCG2; FcGR; CD32A; CDw32; FCGR2; IGFR2; FCGR2A1; MGC23887; MGC30032; FCGR2A 1 +131 12710759 Kobayashi T, Ito S, Yamamoto K, Hasegawa H, Sugita N, Kuroda T, Kaneko S, Narita I, Yasuda K, Nakano M, Gejyo F, Yoshie H. Risk of periodontitis in systemic lupus erythematosus is associated with Fcgamma receptor polymorphisms. J Periodontol. 2003 Mar;74(3):378-84.
FCGR2A.FCGR3A CP 100 200 ns None Japanese CC N n/a n/a 2 Multiple Genes 18052703 Kobayashi T, Ito S, Kuroda T, Yamamoto K, Sugita N, Narita I, Sumida T, Gejyo F, Yoshie H. The interleukin-1 and Fcgamma receptor gene polymorphisms in Japanese patients with rheumatoid arthritis and periodontitis. J Periodontol. 2007 Dec;78(12):2311-8.
FCGR2A.FCGR3A CP&RA 86 186 ns None Japanese CC N n/a n/a 2 Multiple Genes 18052703 Kobayashi T, Ito S, Kuroda T, Yamamoto K, Sugita N, Narita I, Sumida T, Gejyo F, Yoshie H. The interleukin-1 and Fcgamma receptor gene polymorphisms in Japanese patients with rheumatoid arthritis and periodontitis. J Periodontol. 2007 Dec;78(12):2311-8.
FCGR2A.FCGR3B AgP 38 142 0.04 Weak Japanese CC N n/a n/a 2 Multiple Genes 11022771 Kobayashi T, Sugita N, van der Pol WL, Nunokawa Y, Westerdaal NA, Yamamoto K, van de Winkel JG, Yoshie H. The Fcgamma receptor genotype as a risk factor for generalized early-onset periodontitis in Japanese patients. J Periodontol. 2000 Sep;71(9):1425-32.
FCGR2A.FCGR3B AgP 31 80 <0.001 Weak Brazilian CC EG n/a n/a 2 Multiple Genes 16805673 de Souza RC, Colombo AP. Distribution of FcgammaRIIa and FcgammaRIIIb genotypes in patients with generalized aggressive periodontitis. J Periodontol. 2006 Jul;77(7):1120-8.
FCGR2A.FCGR3B CP 100 200 ns None Japanese CC N n/a n/a 2 Multiple Genes 18052703 Kobayashi T, Ito S, Kuroda T, Yamamoto K, Sugita N, Narita I, Sumida T, Gejyo F, Yoshie H. The interleukin-1 and Fcgamma receptor gene polymorphisms in Japanese patients with rheumatoid arthritis and periodontitis. J Periodontol. 2007 Dec;78(12):2311-8.
FCGR2A.FCGR3B CP 83 187 ns None Japanese CC N n/a n/a 2 Multiple Genes 11022771 Kobayashi T, Sugita N, van der Pol WL, Nunokawa Y, Westerdaal NA, Yamamoto K, van de Winkel JG, Yoshie H. The Fcgamma receptor genotype as a risk factor for generalized early-onset periodontitis in Japanese patients. J Periodontol. 2000 Sep;71(9):1425-32.
FCGR2A.FCGR3B CP&RA 86 186 ns None Japanese CC N n/a n/a 2 Multiple Genes 18052703 Kobayashi T, Ito S, Kuroda T, Yamamoto K, Sugita N, Narita I, Sumida T, Gejyo F, Yoshie H. The interleukin-1 and Fcgamma receptor gene polymorphisms in Japanese patients with rheumatoid arthritis and periodontitis. J Periodontol. 2007 Dec;78(12):2311-8.
FCGR2A.FCGR3B.FCGR2B CP 113 221 ns None Japanese CC N n/a n/a 3 Multiple Genes 18321309 Komatsu Y, Galicia JC, Kobayashi T, Yamazaki K, Yoshie H. Association of interleukin-1 receptor antagonist +2018 gene polymorphism with Japanese chronic periodontitis patients using a novel genotyping method. Int J Immunogenet. 2008 Apr;35(2):165-70.
FCGR2B AgP 32 104 0.002 Weak Japanese CC N Fc fragment of IgG, low affinity IIb, receptor (CD32) CD32; FCG2; CD32B; FCGR2; IGFR2; FCGR2B 11 nt 695 (T-C) 14647193 Yasuda K, Sugita N, Kobayashi T, Yamamoto K, Yoshie H. FcgammaRIIB gene polymorphisms in Japanese periodontitis patients. Genes Immun. 2003 Dec;4(8):541-6.
FCGR2B AgP 224 455 ns None Mixed CC EGS Fc fragment of IgG, low affinity IIb, receptor (CD32) CD32; FCG2; CD32B; FCGR2; IGFR2; FCGR2B 1 695 T-C 16899095 Nibali L, Parkar M, Brett P, Knight J, Tonetti MS, Griffiths GS. NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis: a case-control association study. J Clin Periodontol. 2006 Aug;33(8):529-39.
FCGR2B AgP+CP 319 622 ns None Japanese CC AGS Fc fragment of IgG, low affinity IIb, receptor (CD32) CD32; FCG2; CD32B; FCGR2; IGFR2; FCGR2B 2 n/a 19892918 Kobayashi T, Nagata T, Murakami S, Takashiba S, Kurihara H, Izumi Y, Numabe Y, Watanabe H, Kataoka M, Nagai A, Hayashi J, Ohyama H, Okamatsu Y, Inagaki Y, Tai H, Yoshie H. Genetic risk factors for periodontitis in a Japanese population. J Dent Res. 2009 Dec;88(12):1137-41.
FCGR2B CP 72 144 0.011 Weak Japanese CC N Fc fragment of IgG, low affinity IIb, receptor (CD32) CD32; FCG2; CD32B; FCGR2; IGFR2; FCGR2B 11 nt 646 184 (A-G) 14647193 Yasuda K, Sugita N, Kobayashi T, Yamamoto K, Yoshie H. FcgammaRIIB gene polymorphisms in Japanese periodontitis patients. Genes Immun. 2003 Dec;4(8):541-6.
FCGR2B CP 113 221 ns None Japanese CC N Fc fragment of IgG, low affinity IIb, receptor (CD32) CD32; FCG2; CD32B; FCGR2; IGFR2; FCGR2B 1 −232 18321309 Komatsu Y, Galicia JC, Kobayashi T, Yamazaki K, Yoshie H. Association of interleukin-1 receptor antagonist +2018 gene polymorphism with Japanese chronic periodontitis patients using a novel genotyping method. Int J Immunogenet. 2008 Apr;35(2):165-70.
FCGR3A AgP 12 73 0.044 Weak Caucasian CC S Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 −158V/F 12834496 Loos BG, Leppers-Van de Straat FG, Van de Winkel JG, Van der Velden U. Fcgamma receptor polymorphisms in relation to periodontitis. J Clin Periodontol. 2003 Jul;30(7):595-602.
FCGR3A AgP 30 77 ns None Chinese CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 −158V/F 19221562 An N, Ou-Yang XY, Cao CF, Ye J, Hui RT. [Association of Fc gamma receptors IIIA gene polymorphisms with the susceptibility to periodontitis in Chinese patients]. Beijing Da Xue Xue Bao. 2009 Feb 18;41(1):40-3. Chinese.
FCGR3A AgP 9 41 ns None Japanese CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 H/R131 19184295 Shimomura-Kuroki J, Yamashita K, Shimooka S. Tannerella forsythia and the HLA-DQB1 allele are associated with susceptibility to periodontal disease in Japanese adolescents. Odontology. 2009 Jan;97(1):32-7. Epub 2009 Jan 29.
FCGR3A AgP 224 455 ns None Mixed CC EGS Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 559 G/T 16899095 Nibali L, Parkar M, Brett P, Knight J, Tonetti MS, Griffiths GS. NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis: a case-control association study. J Clin Periodontol. 2006 Aug;33(8):529-39.
FCGR3A AgP 32 104 ns None Japanese CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 n/a 14647193 Yasuda K, Sugita N, Kobayashi T, Yamamoto K, Yoshie H. FcgammaRIIB gene polymorphisms in Japanese periodontitis patients. Genes Immun. 2003 Dec;4(8):541-6.
FCGR3A AgP 38 142 ns None Japanese CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 −158V/F 11022771 Kobayashi T, Sugita N, van der Pol WL, Nunokawa Y, Westerdaal NA, Yamamoto K, van de Winkel JG, Yoshie H. The Fcgamma receptor genotype as a risk factor for generalized early-onset periodontitis in Japanese patients. J Periodontol. 2000 Sep;71(9):1425-32.
FCGR3A AgP 48 115 ns None African American CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A n/a 158V/F 12027254 Fu Y, Korostoff JM, Fine DH, Wilson ME. Fc gamma receptor genes as risk markers for localized aggressive periodontitis in African-Americans. J Periodontol. 2002 May;73(5):517-23.
FCGR3A AgP+CP 319 622 ns None Japanese CC AGS Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 559 19892918 Kobayashi T, Nagata T, Murakami S, Takashiba S, Kurihara H, Izumi Y, Numabe Y, Watanabe H, Kataoka M, Nagai A, Hayashi J, Ohyama H, Okamatsu Y, Inagaki Y, Tai H, Yoshie H. Genetic risk factors for periodontitis in a Japanese population. J Dent Res. 2009 Dec;88(12):1137-41.
FCGR3A CP 100 204 0.009 Weak Japanese CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 −158V/F 10444269 Sugita N, Yamamoto K, Kobayashi T, Van Der Pol W, Horigome T, Yoshie H, Van De Winkel JG, Hara K. Relevance of Fc gamma RIIIa-158V-F polymorphism to recurrence of adult periodontitis in Japanese patients. Clin Exp Immunol. 1999 Aug;117(2):350-4.
FCGR3A CP 49 98 0.01 Weak German CC AS Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 −158V/F 11528518 Meisel P, Carlsson LE, Sawaf H, Fanghaenel J, Greinacher A, Kocher T. Polymorphisms of Fc gamma-receptors RIIa, RIIIa, and RIIIb in patients with adult periodontal diseases. Genes Immun. 2001 Aug;2(5):258-62.
FCGR3A CP 89 153 0.028 Weak Japanese CC S Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 −158V/F 11699473 Kobayashi T, Yamamoto K, Sugita N, van der Pol WL, Yasuda K, Kaneko S, van de Winkel JG, Yoshie H. The Fc gamma receptor genotype as a severity factor for chronic periodontitis in Japanese patients. J Periodontol. 2001 Oct;72(10):1324-31.
FCGR3A CP 131 178 ns None Chinese CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 −158V/F 19221562 An N, Ou-Yang XY, Cao CF, Ye J, Hui RT. [Association of Fc gamma receptors IIIA gene polymorphisms with the susceptibility to periodontitis in Chinese patients]. Beijing Da Xue Xue Bao. 2009 Feb 18;41(1):40-3. Chinese.
FCGR3A CP 100 200 ns None Japanese CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 559 G/T 18052703 Kobayashi T, Ito S, Kuroda T, Yamamoto K, Sugita N, Narita I, Sumida T, Gejyo F, Yoshie H. The interleukin-1 and Fcgamma receptor gene polymorphisms in Japanese patients with rheumatoid arthritis and periodontitis. J Periodontol. 2007 Dec;78(12):2311-8.
FCGR3A CP 72 144 ns None Japanese CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 n/a 14647193 Yasuda K, Sugita N, Kobayashi T, Yamamoto K, Yoshie H. FcgammaRIIB gene polymorphisms in Japanese periodontitis patients. Genes Immun. 2003 Dec;4(8):541-6.
FCGR3A CP 56 117 ns None Caucasian CC S Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 −158V/F 12834496 Loos BG, Leppers-Van de Straat FG, Van de Winkel JG, Van der Velden U. Fcgamma receptor polymorphisms in relation to periodontitis. J Clin Periodontol. 2003 Jul;30(7):595-602.
FCGR3A CP 117 558 ns None German CC S Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 −158V/F 19570260 Meisel P, Heins G, Carlsson L, Giebel J, John U, Schwahn C, Kocher T. Impact of Genetic Polymorphisms on the Smoking-related Risk of Periodontal Disease: the Population-based Study SHIP. Tob Induc Dis. 2003 Sep 15;1(3):197.
FCGR3A CP 83 187 ns None Japanese CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 −158V/F 11022771 Kobayashi T, Sugita N, van der Pol WL, Nunokawa Y, Westerdaal NA, Yamamoto K, van de Winkel JG, Yoshie H. The Fcgamma receptor genotype as a risk factor for generalized early-onset periodontitis in Japanese patients. J Periodontol. 2000 Sep;71(9):1425-32.
FCGR3A CP&RA 86 186 ns None Japanese CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 559 G/T 18052703 Kobayashi T, Ito S, Kuroda T, Yamamoto K, Sugita N, Narita I, Sumida T, Gejyo F, Yoshie H. The interleukin-1 and Fcgamma receptor gene polymorphisms in Japanese patients with rheumatoid arthritis and periodontitis. J Periodontol. 2007 Dec;78(12):2311-8.
FCGR3A CP&SLE 42 84 ns None Japanese CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 −158V/F 12710759 Kobayashi T, Ito S, Yamamoto K, Hasegawa H, Sugita N, Kuroda T, Kaneko S, Narita I, Yasuda K, Nakano M, Gejyo F, Yoshie H. Risk of periodontitis in systemic lupus erythematosus is associated with Fcgamma receptor polymorphisms. J Periodontol. 2003 Mar;74(3):378-84.
FCGR3A CP&SLE 42 60 ns None Japanese CC N Fc fragment of IgG, low affinity IIIa, receptor (CD16a) CD16; FCG3; CD16A; FCGR3; IGFR3; FCR-10; FCRIII; FCGRIII; FCRIIIA; FCGR3A 1 −158V/F 12710759 Kobayashi T, Ito S, Yamamoto K, Hasegawa H, Sugita N, Kuroda T, Kaneko S, Narita I, Yasuda K, Nakano M, Gejyo F, Yoshie H. Risk of periodontitis in systemic lupus erythematosus is associated with Fcgamma receptor polymorphisms. J Periodontol. 2003 Mar;74(3):378-84.
FCGR3A.FCGR3B CP 89 153 0.0009 Moderate Japanese CC S n/a n/a 2 Multiple Genes 11699473 Kobayashi T, Yamamoto K, Sugita N, van der Pol WL, Yasuda K, Kaneko S, van de Winkel JG, Yoshie H. The Fc gamma receptor genotype as a severity factor for chronic periodontitis in Japanese patients. J Periodontol. 2001 Oct;72(10):1324-31.
FCGR3A.FCGR3B CP 100 200 ns None Japanese CC N n/a n/a 2 Multiple Genes 18052703 Kobayashi T, Ito S, Kuroda T, Yamamoto K, Sugita N, Narita I, Sumida T, Gejyo F, Yoshie H. The interleukin-1 and Fcgamma receptor gene polymorphisms in Japanese patients with rheumatoid arthritis and periodontitis. J Periodontol. 2007 Dec;78(12):2311-8.
FCGR3A.FCGR3B CP&RA 86 186 ns None Japanese CC N n/a n/a 2 Multiple Genes 18052703 Kobayashi T, Ito S, Kuroda T, Yamamoto K, Sugita N, Narita I, Sumida T, Gejyo F, Yoshie H. The interleukin-1 and Fcgamma receptor gene polymorphisms in Japanese patients with rheumatoid arthritis and periodontitis. J Periodontol. 2007 Dec;78(12):2311-8.
FCGR3B AgP 42 97 0.006 Weak Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 11808760 Yoshihara A, Sugita N, Yamamoto K, Kobayashi T, Miyazaki H, Yoshi H. Analysis of vitamin D and Fcgamma receptor polymorphisms in Japanese patients with generalized early-onset periodontitis. J Dent Res. 2001 Dec;80(12):2051-4.
FCGR3B AgP 32 104 0.016 Weak Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 14647193 Yasuda K, Sugita N, Kobayashi T, Yamamoto K, Yoshie H. FcgammaRIIB gene polymorphisms in Japanese periodontitis patients. Genes Immun. 2003 Dec;4(8):541-6.
FCGR3B AgP 224 455 0.019 Weak Mixed CC EGS Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 2 NA1/NA2 16899095 Nibali L, Parkar M, Brett P, Knight J, Tonetti MS, Griffiths GS. NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis: a case-control association study. J Clin Periodontol. 2006 Aug;33(8):529-39.
FCGR3B AgP 38 142 0.02 Weak Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 11022771 Kobayashi T, Sugita N, van der Pol WL, Nunokawa Y, Westerdaal NA, Yamamoto K, van de Winkel JG, Yoshie H. The Fcgamma receptor genotype as a risk factor for generalized early-onset periodontitis in Japanese patients. J Periodontol. 2000 Sep;71(9):1425-32.
FCGR3B AgP 48 115 0.024 Weak African American CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B n/a NA1/NA2 12027254 Fu Y, Korostoff JM, Fine DH, Wilson ME. Fc gamma receptor genes as risk markers for localized aggressive periodontitis in African-Americans. J Periodontol. 2002 May;73(5):517-23.
FCGR3B AgP 31 80 <0.001 Weak Brazilian CC EG Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 16805673 de Souza RC, Colombo AP. Distribution of FcgammaRIIa and FcgammaRIIIb genotypes in patients with generalized aggressive periodontitis. J Periodontol. 2006 Jul;77(7):1120-8.
FCGR3B AgP 21 47 <0.05 Weak Chinese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 12839649 Zhang HX, Xie H, Ren TG. [Relevance of FcgammaRIIIb genotype, IgG G2m(23) factor to the susceptibility of aggressive periodontitis]. Zhonghua Kou Qiang Yi Xue Za Zhi. 2003 Mar;38(2):129-31. Chinese.
FCGR3B AgP 30 104 ns None Taiwanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 14761117 Chung HY, Lu HC, Chen WL, Lu CT, Yang YH, Tsai CC. Gm (23) allotypes and Fcgamma receptor genotypes as risk factors for various forms of periodontitis. J Clin Periodontol. 2003 Nov;30(11):954-60.
FCGR3B AgP 12 73 ns None Caucasian CC S Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 12834496 Loos BG, Leppers-Van de Straat FG, Van de Winkel JG, Van der Velden U. Fcgamma receptor polymorphisms in relation to periodontitis. J Clin Periodontol. 2003 Jul;30(7):595-602.
FCGR3B AgP 33 60 sig Weak Chinese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 11776881 Fu Y, Cao C, Wang S. [Relevance of Fc gamma R polymorphism to the susceptibility of early-onset periodontitis]. Zhonghua Kou Qiang Yi Xue Za Zhi. 1999 Nov;34(6):364-6. Chinese.
FCGR3B AgP+CP 319 622 ns None Japanese CC AGS Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 19892918 Kobayashi T, Nagata T, Murakami S, Takashiba S, Kurihara H, Izumi Y, Numabe Y, Watanabe H, Kataoka M, Nagai A, Hayashi J, Ohyama H, Okamatsu Y, Inagaki Y, Tai H, Yoshie H. Genetic risk factors for periodontitis in a Japanese population. J Dent Res. 2009 Dec;88(12):1137-41.
FCGR3B CP 100 205 0.0003 Moderate Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 9284119 Kobayashi T, Westerdaal NA, Miyazaki A, van der Pol WL, Suzuki T, Yoshie H, van de Winkel JG, Hara K. Relevance of immunoglobulin G Fc receptor polymorphism to recurrence of adult periodontitis in Japanese patients. Infect Immun. 1997 Sep;65(9):3556-60.
FCGR3B CP 83 187 0.009 Weak Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 11022771 Kobayashi T, Sugita N, van der Pol WL, Nunokawa Y, Westerdaal NA, Yamamoto K, van de Winkel JG, Yoshie H. The Fcgamma receptor genotype as a risk factor for generalized early-onset periodontitis in Japanese patients. J Periodontol. 2000 Sep;71(9):1425-32.
FCGR3B CP 73 119 0.03 Weak Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 11379895 Sugita N, Kobayashi T, Ando Y, Yoshihara A, Yamamoto K, van de Winkel JG, Miyazaki H, Yoshie H. Increased frequency of FcgammaRIIIb-NA1 allele in periodontitis-resistant subjects in an elderly Japanese population. J Dent Res. 2001 Mar;80(3):914-8.
FCGR3B CP n/a 164 <0.001 Moderate Japanese Longitudinal AS Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 15974849 Yoshihara A, Sugita N, Yamamoto K, Kobayashi T, Hirotomi T, Ogawa H, Miyazaki H, Yoshie H. FcgammaRIIIb genotypes and smoking in periodontal disease progression among community-dwelling older adults in Japan. J Periodontol. 2005 Feb;76(2):250-5.
FCGR3B CP 113 221 ns None Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 18321309 Komatsu Y, Galicia JC, Kobayashi T, Yamazaki K, Yoshie H. Association of interleukin-1 receptor antagonist +2018 gene polymorphism with Japanese chronic periodontitis patients using a novel genotyping method. Int J Immunogenet. 2008 Apr;35(2):165-70.
FCGR3B CP 100 200 ns None Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 18052703 Kobayashi T, Ito S, Kuroda T, Yamamoto K, Sugita N, Narita I, Sumida T, Gejyo F, Yoshie H. The interleukin-1 and Fcgamma receptor gene polymorphisms in Japanese patients with rheumatoid arthritis and periodontitis. J Periodontol. 2007 Dec;78(12):2311-8.
FCGR3B CP 132 205 ns None Caucasian CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 16889631 Wolf DL, Neiderud AM, Hinckley K, Dahlén G, van de Winkel JG, Papapanou PN. Fcgamma receptor polymorphisms and periodontal status: a prospective follow-up study. J Clin Periodontol. 2006 Oct;33(10):691-8. Epub 2006 Aug 3.
FCGR3B CP 72 144 ns None Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 14647193 Yasuda K, Sugita N, Kobayashi T, Yamamoto K, Yoshie H. FcgammaRIIB gene polymorphisms in Japanese periodontitis patients. Genes Immun. 2003 Dec;4(8):541-6.
FCGR3B CP 56 117 ns None Caucasian CC S Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 12834496 Loos BG, Leppers-Van de Straat FG, Van de Winkel JG, Van der Velden U. Fcgamma receptor polymorphisms in relation to periodontitis. J Clin Periodontol. 2003 Jul;30(7):595-602.
FCGR3B CP 117 558 ns None German CC S Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 19570260 Meisel P, Heins G, Carlsson L, Giebel J, John U, Schwahn C, Kocher T. Impact of Genetic Polymorphisms on the Smoking-related Risk of Periodontal Disease: the Population-based Study SHIP. Tob Induc Dis. 2003 Sep 15;1(3):197.
FCGR3B CP 52 107 ns None Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 11808760 Yoshihara A, Sugita N, Yamamoto K, Kobayashi T, Miyazaki H, Yoshi H. Analysis of vitamin D and Fcgamma receptor polymorphisms in Japanese patients with generalized early-onset periodontitis. J Dent Res. 2001 Dec;80(12):2051-4.
FCGR3B CP 89 153 ns None Japanese CC S Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 11699473 Kobayashi T, Yamamoto K, Sugita N, van der Pol WL, Yasuda K, Kaneko S, van de Winkel JG, Yoshie H. The Fc gamma receptor genotype as a severity factor for chronic periodontitis in Japanese patients. J Periodontol. 2001 Oct;72(10):1324-31.
FCGR3B CP 49 98 ns None German CC AS Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 11528518 Meisel P, Carlsson LE, Sawaf H, Fanghaenel J, Greinacher A, Kocher T. Polymorphisms of Fc gamma-receptors RIIa, RIIIa, and RIIIb in patients with adult periodontal diseases. Genes Immun. 2001 Aug;2(5):258-62.
FCGR3B CP 86 113 ns None n/a CC S Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 9667480 Colombo AP, Eftimiadi C, Haffajee AD, Cugini MA, Socransky SS. Serum IgG2 level, Gm(23) allotype and FcgammaRIIa and FcgammaRIIIb receptors in refractory periodontal disease. J Clin Periodontol. 1998 Jun;25(6):465-74.
FCGR3B CP&RA 86 186 ns None Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 18052703 Kobayashi T, Ito S, Kuroda T, Yamamoto K, Sugita N, Narita I, Sumida T, Gejyo F, Yoshie H. The interleukin-1 and Fcgamma receptor gene polymorphisms in Japanese patients with rheumatoid arthritis and periodontitis. J Periodontol. 2007 Dec;78(12):2311-8.
FCGR3B CP&SLE 42 84 ns None Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 12710759 Kobayashi T, Ito S, Yamamoto K, Hasegawa H, Sugita N, Kuroda T, Kaneko S, Narita I, Yasuda K, Nakano M, Gejyo F, Yoshie H. Risk of periodontitis in systemic lupus erythematosus is associated with Fcgamma receptor polymorphisms. J Periodontol. 2003 Mar;74(3):378-84.
FCGR3B CP&SLE 42 60 ns None Japanese CC N Fc fragment of IgG, low affinity IIIb, receptor (CD16b) CD16; FCG3; CD16b; FCGR3; FCGR3B 1 NA1/NA2 12710759 Kobayashi T, Ito S, Yamamoto K, Hasegawa H, Sugita N, Kuroda T, Kaneko S, Narita I, Yasuda K, Nakano M, Gejyo F, Yoshie H. Risk of periodontitis in systemic lupus erythematosus is associated with Fcgamma receptor polymorphisms. J Periodontol. 2003 Mar;74(3):378-84.
FCN1 AgP+CP 251 376 ns None Japanese CC N Ficolin (collagen/fibrinogen domain containing) 1 FCNM; FCN1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FGA CP 22 41 ns None Japanese CC N Fibrinogen alpha chain Fib2; MGC119422; MGC119423; MGC119425; FGA 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
FGB AgP+CP 319 622 ns None Japanese CC AGS Fibrinogen beta chain MGC104327; MGC120405; FGB 1 −455 19892918 Kobayashi T, Nagata T, Murakami S, Takashiba S, Kurihara H, Izumi Y, Numabe Y, Watanabe H, Kataoka M, Nagai A, Hayashi J, Ohyama H, Okamatsu Y, Inagaki Y, Tai H, Yoshie H. Genetic risk factors for periodontitis in a Japanese population. J Dent Res. 2009 Dec;88(12):1137-41.
FGB CP n/a 121 0.008 Weak Chinese CC N Fibrinogen beta chain MGC104327; MGC120405; FGB 1 −455 G/A 18683729 Ge S, Wu YF, Liu TJ, He QM, Zhao L, Meng S. [Correlation between levels of fibrinogen, beta455 g/A fibrinogen gene polymorphism and chronic periodontitis]. Zhonghua Kou Qiang Yi Xue Za Zhi. 2008 Feb;43(2):87-91. Chinese.
FGB CP 79 154 0.01 Weak Mixed CC N Fibrinogen beta chain MGC104327; MGC120405; FGB 1 HaeIII, -455 12710752 Sahingur SE, Sharma A, Genco RJ, De Nardin E. Association of increased levels of fibrinogen and the -455G/A fibrinogen gene polymorphism with chronic periodontitis. J Periodontol. 2003 Mar;74(3):329-37.
FGF1 AgP+CP 251 376 ns None Japanese CC N Fibroblast growth factor 1 (acidic) AFGF; ECGF; FGFA; ECGFA; ECGFB; HBGF1; GLIO703; ECGF-beta; FGF-alpha; FGF1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FGF10 AgP+CP 251 376 ns None Japanese CC N Fibroblast growth factor 10 FGF10 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FGF12 AgP+CP 251 376 ns None Japanese CC N Fibroblast growth factor 12 FHF1; FGF12B; FGF12 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FGF12 AgP+CP 251 376 ns None Japanese CC N Fibroblast growth factor 12 FHF1; FGF12B; FGF12 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FGF13 AgP+CP 251 376 ns None Japanese CC N Fibroblast growth factor 13 FGF2; FHF2; FHF-2; FGF13 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FGF2 AgP+CP 251 376 ns None Japanese CC N Fibroblast growth factor 2 (basic) BFGF; FGFB; HBGF-2; FGF2 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FGF21 AgP+CP 251 376 ns None Japanese CC N Fibroblast growth factor 21 FGF21 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FGF6 AgP+CP 251 376 ns None Japanese CC N Fibroblast growth factor 6 HST2; HBGF-6; FGF6 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FGF9 AgP+CP 251 376 ns None Japanese CC N Fibroblast growth factor 9 (glia-activating factor) GAF; SYNS3; HBFG-9; MGC119914; MGC119915; FGF9 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FGFRL1 AgP+CP 251 376 ns None Japanese CC N Fibroblast growth factor receptor-like 1 FHFR; FGFR5; FGFRL1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FGL1 CP 22 41 ns None Japanese CC N Fibrinogen-like 1 HFREP1; HP-041; LFIRE1; MGC12455; FGL1 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
FGL2 CP 22 41 0.007 Weak Japanese CC N Fibrinogen-like 2 T49; pT49; FGL2 1 IMS-JST003521 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
FN1 AgP+CP 251 376 ns None Japanese CC N Fibronectin 1 FN; CIG; FNZ; MSF; ED-B; FINC; GFND; LETS; GFND2; DKFZp686H0342; DKFZp686I1370; DKFZp686F10164; DKFZp686O13149; FN1 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FOXK2 AgP+CP 251 376 ns None Japanese CC N Forkhead box K2 ILF; ILF1; ILF-1; FOXK2 n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
FPR1 AgP 49 422 0.00002 Moderate Japanese CC N Formyl peptide receptor 1 FPR; FMLP; FPR1 3 −12915C>T.301G>C.546C>A 17927965 Gunji T, Onouchi Y, Nagasawa T, Katagiri S, Watanabe H, Kobayashi H, Arakawa S, Noguchi K, Hata A, Izumi Y, Ishikawa I. Functional polymorphisms of the FPR1 gene and aggressive periodontitis in Japanese. Biochem Biophys Res Commun. 2007 Dec 7;364(1):7-13. Epub 2007 Oct 2.
FPR1 AgP 30 63 0.0005 Weak African American CC N Formyl peptide receptor 1 FPR; FMLP; FPR1 6 348T>C 19254133 Maney P, Emecen P, Mills JS, Walters JD. Neutrophil formylpeptide receptor single nucleotide polymorphism 348T>C in aggressive periodontitis. J Periodontol. 2009 Mar;80(3):492-8.
FPR1 AgP 30 50 0.0005 Weak Mixed CC E Formyl peptide receptor 1 FPR; FMLP; FPR1 3 Cys126Try or Phe110Ser 10534074 Gwinn MR, Sharma A, De Nardin E. Single nucleotide polymorphisms of the N-formyl peptide receptor in localized juvenile periodontitis. J Periodontol. 1999 Oct;70(10):1194-201.
FPR1 AgP 49 422 0.00098 Moderate Japanese CC N Formyl peptide receptor 1 FPR; FMLP; FPR1 30 −12915C>T 17927965 Gunji T, Onouchi Y, Nagasawa T, Katagiri S, Watanabe H, Kobayashi H, Arakawa S, Noguchi K, Hata A, Izumi Y, Ishikawa I. Functional polymorphisms of the FPR1 gene and aggressive periodontitis in Japanese. Biochem Biophys Res Commun. 2007 Dec 7;364(1):7-13. Epub 2007 Oct 2.
FPR1 AgP 111 226 0.0018 Weak Mixed CC E Formyl peptide receptor 1 FPR; FMLP; FPR1 6 N192K 12595898 Zhang Y, Syed R, Uygar C, Pallos D, Gorry MC, Firatli E, Cortelli JR, VanDyke TE, Hart PS, Feingold E, Hart TC. Evaluation of human leukocyte N-formylpeptide receptor (FPR1) SNPs in aggressive periodontitis patients. Genes Immun. 2003 Jan;4(1):22-9.
FPR1 AgP 30 63 0.0036 Weak African American CC N Formyl peptide receptor 1 FPR; FMLP; FPR1 4 Haplotype 19254133 Maney P, Emecen P, Mills JS, Walters JD. Neutrophil formylpeptide receptor single nucleotide polymorphism 348T>C in aggressive periodontitis. J Periodontol. 2009 Mar;80(3):492-8.
FPR1 AgP 37 75 0.017 Weak African American CC N Formyl peptide receptor 1 FPR; FMLP; FPR1 12 348T>C 19722801 Maney P, Walters JD. Formylpeptide Receptor Single Nucleotide Polymorphism 348T>C and Its Relationship to Polymorphonuclear Leukocyte Chemotaxis in Aggressive Periodontitis. J Periodontol. 2009 Sep;80(9):1498-505.
FPR1 AgP 37 75 ns None African American CC N Formyl peptide receptor 1 FPR; FMLP; FPR1 4 Haplotype 19722801 Maney P, Walters JD. Formylpeptide Receptor Single Nucleotide Polymorphism 348T>C and Its Relationship to Polymorphonuclear Leukocyte Chemotaxis in Aggressive Periodontitis. J Periodontol. 2009 Sep;80(9):1498-505.
FPR1 AgP 75 138 ns None Turkish CC N Formyl peptide receptor 1 FPR; FMLP; FPR1 6 Multiple SNPs 19254133 Maney P, Emecen P, Mills JS, Walters JD. Neutrophil formylpeptide receptor single nucleotide polymorphism 348T>C in aggressive periodontitis. J Periodontol. 2009 Mar;80(3):492-8.
FPR1 AgP 75 138 ns None Turkish CC N Formyl peptide receptor 1 FPR; FMLP; FPR1 4 Haplotype 19254133 Maney P, Emecen P, Mills JS, Walters JD. Neutrophil formylpeptide receptor single nucleotide polymorphism 348T>C in aggressive periodontitis. J Periodontol. 2009 Mar;80(3):492-8.
FPR1 AgP 224 455 ns None Mixed CC EGS Formyl peptide receptor 1 FPR; FMLP; FPR1 3 Multiple SNPs 16899095 Nibali L, Parkar M, Brett P, Knight J, Tonetti MS, Griffiths GS. NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis: a case-control association study. J Clin Periodontol. 2006 Aug;33(8):529-39.
FPR1 AgP+CP 319 622 ns None Japanese CC AGS Formyl peptide receptor 1 FPR; FMLP; FPR1 2 n/a 19892918 Kobayashi T, Nagata T, Murakami S, Takashiba S, Kurihara H, Izumi Y, Numabe Y, Watanabe H, Kataoka M, Nagai A, Hayashi J, Ohyama H, Okamatsu Y, Inagaki Y, Tai H, Yoshie H. Genetic risk factors for periodontitis in a Japanese population. J Dent Res. 2009 Dec;88(12):1137-41.
FPR1 CP 22 41 ns None Japanese CC N Formyl peptide receptor 1 FPR; FMLP; FPR1 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GAL3ST1 CP 22 41 ns None Japanese CC N Galactose-3-O-sulfotransferase 1 CST; GAL3ST1 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GBP2 CP 22 41 ns None Japanese CC N Guanylate binding protein 2, interferon-inducible GBP2 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GC AgP+CP 146 228 ns None Mixed Fam N Group-specific component (vitamin D binding protein) DBP; VDBG; VDBP; DBP/GC; GC 1 n/a 8100208 Hart TC, Marazita ML, McCanna KM, Schenkein HA, Diehl SR. Reevaluation of the chromosome 4q candidate region for early onset periodontitis. Hum Genet. 1993 Jun;91(5):416-22.
GCK CP 22 41 ns None Japanese CC N Glucokinase (hexokinase 4) GK; GLK; HK4; HHF3; HKIV; HXKP; MODY2; GCK 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GHRHR CP 22 41 ns None Japanese CC N Growth hormone releasing hormone receptor GRFR; GHRFR; IGHD1B; GHRHRpsv; GHRHR 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GIP CP 22 41 ns None Japanese CC N Gastric inhibitory polypeptide GIP 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GIPR CP 22 41 ns None Japanese CC N Gastric inhibitory polypeptide receptor MGC126722; GIPR 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GLP1R CP 22 41 ns None Japanese CC N GlucaGon-like peptide 1 receptor MGC138331; GLP1R 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GLP2R CP 22 41 ns None Japanese CC N Glucagon-like peptide 2 receptor GLP2R 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GLT6D1 AgP 447 1787 5.51E-09 Strong Caucasian CC ADGS Glycosyltransferase 6 domain containing 1 GT6M7; GLTDC1; GLT6D1 GWAS rs1537415 19897590 Schaefer AS, Richter GM, Nothnagel M, Manke T, Dommisch H, Jacobs G, Arlt A, Rosenstiel P, Noack B, Groessner-Schreiber B, Jepsen S, Loos BG, Schreiber S. A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis. Hum Mol Genet. 2009 Dec 1.
GNB3 CP 22 41 ns None Japanese CC N Guanine nucleotide binding protein (G protein), beta polypeptide 3 GNB3 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GNRH1 CP 22 41 0.0008 Weak Japanese CC N Gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) GRH; GNRH; LHRH; LNRH; GNRH1 1 IMS-JST057216 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GPR39 CP 22 41 ns None Japanese CC N G protein-coupled receptor 39 MGC149541; GPR39 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GPX3 CP 22 41 ns None Japanese CC N Glutathione peroxidase 3 (plasma) GPx-P; GSHPx-3; GSHPx-P; GPX3 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GPX5 CP 22 41 ns None Japanese CC N Glutathione peroxidase 5 (epididymal androgen-related protein) GPX5 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GRP CP 22 41 ns None Japanese CC N Gastrin-releasinG peptide BN; GRP-10; proGRP; preproGRP; GRP 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GSTM1 AgP 14 75 0.002 Weak Caucasian CC N Glutathione S-transferase mu 1 MU; H-B; GST1; GTH4; GTM1; MU-1; GSTM1-1; MGC26563; GSTM1a-1a; GSTM1b-1b; GSTM1 1 n/a 17524385 Concolino P, Cecchetti F, D’Autilia C, Santonocito C, Di Stasio E, Zuppi C, Arcuri C, Deli G, Giardina B, Capoluongo E, Ameglio F. Association of periodontitis with GSTM1/GSTT1-null variants-a pilot study. Clin Biochem. 2007 Sep;40(13-14):939-45. Epub 2007 Apr 27.
GSTM1 AgP+CP 83 144 0.0007 Moderate Caucasian CC N Glutathione S-transferase mu 1 MU; H-B; GST1; GTH4; GTM1; MU-1; GSTM1-1; MGC26563; GSTM1a-1a; GSTM1b-1b; GSTM1 1 n/a 17524385 Concolino P, Cecchetti F, D’Autilia C, Santonocito C, Di Stasio E, Zuppi C, Arcuri C, Deli G, Giardina B, Capoluongo E, Ameglio F. Association of periodontitis with GSTM1/GSTT1-null variants-a pilot study. Clin Biochem. 2007 Sep;40(13-14):939-45. Epub 2007 Apr 27.
GSTM1 CP 69 130 0.001 Weak Caucasian CC AGHS Glutathione S-transferase mu 1 MU; H-B; GST1; GTH4; GTM1; MU-1; GSTM1-1; MGC26563; GSTM1a-1a; GSTM1b-1b; GSTM1 1 n/a 17524385 Concolino P, Cecchetti F, D’Autilia C, Santonocito C, Di Stasio E, Zuppi C, Arcuri C, Deli G, Giardina B, Capoluongo E, Ameglio F. Association of periodontitis with GSTM1/GSTT1-null variants-a pilot study. Clin Biochem. 2007 Sep;40(13-14):939-45. Epub 2007 Apr 27.
GSTM1 CP 115 241 0.05 Weak Korean CC S Glutathione S-transferase mu 1 MU; H-B; GST1; GTH4; GTM1; MU-1; GSTM1-1; MGC26563; GSTM1a-1a; GSTM1b-1b; GSTM1 1 n/a 15491310 Kim JS, Park JY, Chung WY, Choi MA, Cho KS, Park KK. Polymorphisms in genes coding for enzymes metabolizing smoking-derived substances and the risk of periodontitis. J Clin Periodontol. 2004 Nov;31(11):959-64.
GSTM1.GSTT1 AgP 14 75 <0.0001 Moderate Caucasian CC N n/a n/a 2 Multiple Genes 17524385 Concolino P, Cecchetti F, D’Autilia C, Santonocito C, Di Stasio E, Zuppi C, Arcuri C, Deli G, Giardina B, Capoluongo E, Ameglio F. Association of periodontitis with GSTM1/GSTT1-null variants-a pilot study. Clin Biochem. 2007 Sep;40(13-14):939-45. Epub 2007 Apr 27.
GSTM1.GSTT1 AgP+CP 83 144 0.034 Weak Caucasian CC AGHS n/a n/a 2 Multiple Genes 17524385 Concolino P, Cecchetti F, D’Autilia C, Santonocito C, Di Stasio E, Zuppi C, Arcuri C, Deli G, Giardina B, Capoluongo E, Ameglio F. Association of periodontitis with GSTM1/GSTT1-null variants-a pilot study. Clin Biochem. 2007 Sep;40(13-14):939-45. Epub 2007 Apr 27.
GSTT1 AgP 14 75 ns None Caucasian CC N Glutathione S-transferase theta 1 GSTT1 1 n/a 17524385 Concolino P, Cecchetti F, D’Autilia C, Santonocito C, Di Stasio E, Zuppi C, Arcuri C, Deli G, Giardina B, Capoluongo E, Ameglio F. Association of periodontitis with GSTM1/GSTT1-null variants-a pilot study. Clin Biochem. 2007 Sep;40(13-14):939-45. Epub 2007 Apr 27.
GSTT1 AgP+CP 83 144 ns None Caucasian CC N Glutathione S-transferase theta 1 GSTT1 1 n/a 17524385 Concolino P, Cecchetti F, D’Autilia C, Santonocito C, Di Stasio E, Zuppi C, Arcuri C, Deli G, Giardina B, Capoluongo E, Ameglio F. Association of periodontitis with GSTM1/GSTT1-null variants-a pilot study. Clin Biochem. 2007 Sep;40(13-14):939-45. Epub 2007 Apr 27.
GSTT1 CP 69 130 ns None Caucasian CC N Glutathione S-transferase theta 1 GSTT1 1 n/a 17524385 Concolino P, Cecchetti F, D’Autilia C, Santonocito C, Di Stasio E, Zuppi C, Arcuri C, Deli G, Giardina B, Capoluongo E, Ameglio F. Association of periodontitis with GSTM1/GSTT1-null variants-a pilot study. Clin Biochem. 2007 Sep;40(13-14):939-45. Epub 2007 Apr 27.
GSTT2 CP 22 41 ns None Japanese CC N Glutathione S-transferase theta 2 MGC182032; GSTT2 1 n/a 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
GZMB CP 22 41 ns None Japanese CC N Granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) HLP; CCPI; CGL1; CSPB; SECT; CGL-1; CSP-B; CTLA1; CTSGL1; GZMB 2 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
HBEGF AgP+CP 251 376 ns None Japanese CC N Heparin-binding EGF-like growth factor DTR; DTS; DTSF; HEGFL; HBEGF n/a n/a 15081423 Suzuki A, Ji G, Numabe Y, Muramatsu M, Gomi K, Kanazashi M, Ogata Y, Shimizu E, Shibukawa Y, Ito A, Ito T, Sugaya A, Arai T, Yamada S, Deguchi S, Kamoi K. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. Biochem Biophys Res Commun. 2004 May 7;317(3):887-92.
HFE CP 22 41 ns None Japanese CC N Hemochromatosis HH; HFE1; HLA-H; MVCD7; MGC103790; dJ221C16.10.1; HFE 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
HGF CP 22 41 ns None Japanese CC N Hepatocyte growth factor (hepapoietin A; scatter factor) SF; HGFB; HPTA; F-TCF; DFNB39; HGF 3 Multiple SNPs 15490304 Suzuki A, Ji G, Numabe Y, Ishii K, Muramatsu M, Kamoi K. Large-scale investigation of genomic markers for severe periodontitis. Odontology. 2004 Sep;92(1):43-7.
HLA-A AgP 50 152 0.007 Weak Caucasian CC N HLAA; FLJ26655; HLA-A n/a A*30/31 12296785 Machulla HK, Stein J, Gautsch A, Langner J, Schaller HG, Reichert S. HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP). J Clin Periodontol. 2002 Jun;29(6):573-9.
HLA-A AgP 50 152 0.007 Weak Caucasian CC G Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A*68/69 12485327 Reichert S, Stein J, Gautsch A, Schaller HG, Machulla HK. Gender differences in HLA phenotype frequencies found in German patients with generalized aggressive periodontitis and chronic periodontitis. Oral Microbiol Immunol. 2002 Dec;17(6):360-8.
HLA-A AgP 44 2085 0.018 Weak Caucasian CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A24 3641478 Klouda PT, Porter SR, Scully C, Corbin SA, Bradley BA, Smith R, Davies RM. Association between HLA-A9 and rapidly progressive periodontitis. Tissue Antigens. 1986 Sep;28(3):146-9.
HLA-A AgP 18 18 0.04 Weak Black CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A 14 A33 3457042 Cogen RB, Roseman JM, Al-Joburi W, Louv WC, Acton RT, Barger BO, Go RC, Rasmussen RA. Host factors in juvenile periodontitis. J Dent Res. 1986 Mar;65(3):394-9.
HLA-A AgP 50 152 0.04 Weak Caucasian CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A*02, A*03 12941076 Stein J, Reichert S, Gautsch A, Machulla HK. Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis? J Periodontal Res. 2003 Oct;38(5):508-17.
HLA-A AgP 28 69 <0.003 Weak Caucasian CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A2 1054359 Kaslick RS, West TL, Chasens AI, Terasaki PI, Lazzara R, Weinberg S. Association between HL-A2 antigen and various periodontal diseases in young adults. J Dent Res. 1975 Mar-Apr;54(2):424.
HLA-A AgP 26 139 <0.005 Weak non-Ashkenazi CC E Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A9 15111626 Shapira L, Eizenberg S, Sela MN, Soskolne A, Brautbar H. HLA A9 and B15 are associated with the generalized form, but not the localized form, of early-onset periodontal diseases. J Periodontol. 1994 Mar;65(3):219-23.
HLA-A AgP 49 89 <0.01 Weak Caucasian CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A9 3163857 Amer A, Singh G, Darke C, Dolby AE. Association between HLA antigens and periodontal disease. Tissue Antigens. 1988 Feb;31(2):53-8.
HLA-A AgP 26 139 <0.05 Weak non-Ashkenazi CC E Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a B15 15111626 Shapira L, Eizenberg S, Sela MN, Soskolne A, Brautbar H. HLA A9 and B15 are associated with the generalized form, but not the localized form, of early-onset periodontal diseases. J Periodontol. 1994 Mar;65(3):219-23.
HLA-A AgP 30 370 <0.05 Weak Mixed CC E Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a Blank 6155463 Cullinan MP, Sachs J, Wolf E, Seymour GJ. The distribution of HLA-A and -B antigens in patients and their families with periodontosis. J Periodontal Res. 1980 Mar;15(2):177-84.
HLA-A AgP 19 60 ns None Caucasian CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A2 50636 Terasaki PI, Kaslick RS, West TL, Chasens AI. Low HL-A2 frequency and periodontitis. Tissue Antigens. 1975 May;5(4):286-8.
HLA-A AgP 19 60 ns None Caucasian CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A2 1054359 Kaslick RS, West TL, Chasens AI, Terasaki PI, Lazzara R, Weinberg S. Association between HL-A2 antigen and various periodontal diseases in young adults. J Dent Res. 1975 Mar-Apr;54(2):424.
HLA-A AgP 10 130 ns None Mixed CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a Multiple SNPs 3498813 Katz J, Goultschin J, Benoliel R, Brautbar C. Human leukocyte antigen (HLA) DR4. Positive association with rapidly progressing periodontitis. J Periodontol. 1987 Sep;58(9):607-10.
HLA-A AgP 60 3791 sig Weak Turkish CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A 13 A9 8811476 Firatli E, Kantarci A, Cebeci I, Tanyeri H, Sönmez G, Carin M, Tuncer O. Association between HLA antigens and early onset periodontitis. J Clin Periodontol. 1996 Jun;23(6):563-6.
HLA-A AgP 39 2006 sig Weak Danish CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A9, A28 272392 Reinholdt J, Bay I, Svejgaard A. Association between HLA-antigens and periodontal disease. J Dent Res. 1977 Oct;56(10):1261-3.
HLA-A CP 102 204 0.032 Weak Caucasian CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A*29 12296785 Machulla HK, Stein J, Gautsch A, Langner J, Schaller HG, Reichert S. HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP). J Clin Periodontol. 2002 Jun;29(6):573-9.
HLA-A CP 102 204 0.032 Weak Caucasian CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A*01, A*03 12941076 Stein J, Reichert S, Gautsch A, Machulla HK. Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis? J Periodontal Res. 2003 Oct;38(5):508-17.
HLA-A CP 102 204 0.04 Weak Caucasian CC G Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A*11 12485327 Reichert S, Stein J, Gautsch A, Schaller HG, Machulla HK. Gender differences in HLA phenotype frequencies found in German patients with generalized aggressive periodontitis and chronic periodontitis. Oral Microbiol Immunol. 2002 Dec;17(6):360-8.
HLA-A CP 40 120 ns None South Indian CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A 1 A9 17209778 Roshna T, Thomas R, Nandakumar K, Banerjee M. A case-control study on the association of human leukocyte antigen-A*9 and -B*15 alleles with generalized aggressive periodontitis in an Indian population. J Periodontol. 2006 Dec;77(12):1954-63.
HLA-A CP 25 50 ns None Mixed CC E Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A28 6584591 Goteiner D, Goldman MJ. Human lymphocyte antigen haplotype and resistance to periodontitis. J Periodontol. 1984 Mar;55(3):155-8.
HLA-A CP 28 69 sig Weak Caucasian CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A2 50636 Terasaki PI, Kaslick RS, West TL, Chasens AI. Low HL-A2 frequency and periodontitis. Tissue Antigens. 1975 May;5(4):286-8.
HLA-A CP 62 106 sig Weak French CC N Major histocompatibility complex, class I, A HLAA; FLJ26655; HLA-A n/a A9 3093668 Balndin-Texier A, Gueguin M, Fauchet R, Yardin M, Cathelineau G. [The HLA-A9 antigen and chronic periodontitis]. J Parodontol. 1986 Sep;5(3):221-7.
HLA-A.HLA-B AgP 50 152 0.034 Weak Caucasian CC N n/a n/a n/a Multiple Genes 12941076 Stein J, Reichert S, Gautsch A, Machulla HK. Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis? J Periodontal Res. 2003 Oct;38(5):508-17.
HLA-A.HLA-B CP 40 120 0.011 Weak South Indian CC N n/a n/a 2 Multiple Genes 17209778 Roshna T, Thomas R, Nandakumar K, Banerjee M. A case-control study on the association of human leukocyte antigen-A*9 and -B*15 alleles with generalized aggressive periodontitis in an Indian population. J Periodontol. 2006 Dec;77(12):1954-63.
HLA-A.HLA-B CP 102 204 0.03 Weak Caucasian CC N n/a n/a n/a Multiple Genes 12941076 Stein J, Reichert S, Gautsch A, Machulla HK. Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis? J Periodontal Res. 2003 Oct;38(5):508-17.
HLA-A.HLA-Cw AgP 50 152 0.031 Weak Caucasian CC N n/a n/a n/a Multiple Genes 12941076 Stein J, Reichert S, Gautsch A, Machulla HK. Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis? J Periodontal Res. 2003 Oct;38(5):508-17.
HLA-B AgP 30 370 <0.001 Weak Mixed CC E Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B n/a BW35 6155463 Cullinan MP, Sachs J, Wolf E, Seymour GJ. The distribution of HLA-A and -B antigens in patients and their families with periodontosis. J Periodontal Res. 1980 Mar;15(2):177-84.
HLA-B AgP 18 18 ns None Black CC N Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B 32 Multiple SNPs 3457042 Cogen RB, Roseman JM, Al-Joburi W, Louv WC, Acton RT, Barger BO, Go RC, Rasmussen RA. Host factors in juvenile periodontitis. J Dent Res. 1986 Mar;65(3):394-9.
HLA-B AgP 60 3791 ns None Turkish CC N Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B 18 Multiple SNPs 8811476 Firatli E, Kantarci A, Cebeci I, Tanyeri H, Sönmez G, Carin M, Tuncer O. Association between HLA antigens and early onset periodontitis. J Clin Periodontol. 1996 Jun;23(6):563-6.
HLA-B AgP 50 152 ns None Caucasian CC N Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B n/a n/a 12296785 Machulla HK, Stein J, Gautsch A, Langner J, Schaller HG, Reichert S. HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP). J Clin Periodontol. 2002 Jun;29(6):573-9.
HLA-B AgP 50 152 ns None Caucasian CC G Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B n/a n/a 12485327 Reichert S, Stein J, Gautsch A, Schaller HG, Machulla HK. Gender differences in HLA phenotype frequencies found in German patients with generalized aggressive periodontitis and chronic periodontitis. Oral Microbiol Immunol. 2002 Dec;17(6):360-8.
HLA-B AgP 50 152 ns None Caucasian CC N Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B n/a n/a 12941076 Stein J, Reichert S, Gautsch A, Machulla HK. Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis? J Periodontal Res. 2003 Oct;38(5):508-17.
HLA-B AgP 49 89 ns None Caucasian CC N Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B n/a n/a 3163857 Amer A, Singh G, Darke C, Dolby AE. Association between HLA antigens and periodontal disease. Tissue Antigens. 1988 Feb;31(2):53-8.
HLA-B AgP 10 130 ns None Mixed CC N Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B n/a Multiple SNPs 3498813 Katz J, Goultschin J, Benoliel R, Brautbar C. Human leukocyte antigen (HLA) DR4. Positive association with rapidly progressing periodontitis. J Periodontol. 1987 Sep;58(9):607-10.
HLA-B AgP 44 2085 ns None Caucasian CC N Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B n/a n/a 3641478 Klouda PT, Porter SR, Scully C, Corbin SA, Bradley BA, Smith R, Davies RM. Association between HLA-A9 and rapidly progressive periodontitis. Tissue Antigens. 1986 Sep;28(3):146-9.
HLA-B AgP 39 2006 sig Weak Danish CC N Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B n/a B15 272392 Reinholdt J, Bay I, Svejgaard A. Association between HLA-antigens and periodontal disease. J Dent Res. 1977 Oct;56(10):1261-3.
HLA-B CP 40 120 0.0004 Weak South Indian CC N Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B 1 B15 17209778 Roshna T, Thomas R, Nandakumar K, Banerjee M. A case-control study on the association of human leukocyte antigen-A*9 and -B*15 alleles with generalized aggressive periodontitis in an Indian population. J Periodontol. 2006 Dec;77(12):1954-63.
HLA-B CP 25 50 0.0059 Weak Mixed CC E Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B n/a B5 6584591 Goteiner D, Goldman MJ. Human lymphocyte antigen haplotype and resistance to periodontitis. J Periodontol. 1984 Mar;55(3):155-8.
HLA-B CP 102 204 0.014 Weak Caucasian CC N Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B n/a B*14 12296785 Machulla HK, Stein J, Gautsch A, Langner J, Schaller HG, Reichert S. HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP). J Clin Periodontol. 2002 Jun;29(6):573-9.
HLA-B CP 102 204 0.014 Weak Caucasian CC G Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B n/a B*14 12485327 Reichert S, Stein J, Gautsch A, Schaller HG, Machulla HK. Gender differences in HLA phenotype frequencies found in German patients with generalized aggressive periodontitis and chronic periodontitis. Oral Microbiol Immunol. 2002 Dec;17(6):360-8.
HLA-B CP 102 204 ns None Caucasian CC N Major histocompatibility complex, class I, B AS; HLAB; HLAC; SPDA1; HLA-B27; HLA-B73; MGC111087; HLA-B-7301; HLA-B n/a n/a 12941076 Stein J, Reichert S, Gautsch A, Machulla HK. Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis? J Periodontal Res. 2003 Oct;38(5):508-17.
HLA-B.HLA-DQB1 CP 102 204 ns None Caucasian CC N n/a n/a n/a Multiple Genes 12941076 Stein J, Reichert S, Gautsch A, Machulla HK. Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis? J Periodontal Res. 2003 Oct;38(5):508-17.
HLA-B.HLA-DQB1 CP 102 204 ns None Caucasian CC N n/a n/a n/a Multiple Genes 12941076 Stein J, Reichert S, Gautsch A, Machulla HK. Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis? J Periodontal Res. 2003 Oct;38(5):508-17.
HLA-B.HLA-DRB1 CP 102 204 0.029 Weak Caucasian CC N n/a n/a n/a Multiple Genes 12941076 Stein J, Reichert S, Gautsch A, Machulla HK. Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis? J Periodontal Res. 2003 Oct;38(5):508-17.
HLA-C AgP 18 18 ns None Black CC N Major histocompatibility complex, class I, C D6S204; FLJ27082; HLA-Cw; HLA-Cw12; HLA-JY3; HLC-C; PSORS1; HLA-C 4 Multiple SNPs 3457042 Cogen RB, Roseman JM, Al-Joburi W, Louv WC, Acton RT, Barger BO, Go RC, Rasmussen RA. Host factors in juvenile periodontitis. J Dent Res. 1986 Mar;65(3):394-9.
HLA-C AgP 60 3791 ns None Turkish CC N Major histocompatibility complex, class I, C D6S204; FLJ27082; HLA-Cw; HLA-Cw12; HLA-JY3; HLC-C; PSORS1; HLA-C 4 Multiple SNPs 8811476 Firatli E, Kantarci A, Cebeci I, Tanyeri H, Sönmez G, Carin M, Tuncer O. Association between HLA antigens and early onset periodontitis. J Clin Periodontol. 1996 Jun;23(6):563-6.
HLA-C AgP 50 152 ns None Caucasian CC N Major histocompatibility complex, class I, C D6S204; FLJ27082; HLA-Cw; HLA-Cw12; HLA-JY3; HLC-C; PSORS1; HLA-C n/a n/a 12296785 Machulla HK, Stein J, Gautsch A, Langner J, Schaller HG, Reichert S. HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP). J Clin Periodontol. 2002 Jun;29(6):573-9.
HLA-C AgP 50

Jan 15, 2015 | Posted by in Periodontics | Comments Off on 6: Genetic Susceptibility to Periodontal Disease
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