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Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries
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نویسنده
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Eckert Scott ,Feingold Eleanor ,Cooper Margaret ,Vanyukov Michael M ,Maher Brion S ,Slayton Rebecca L ,Willing Marcia C ,Reis Steven E ,McNeil Daniel W ,Crout Richard J ,Weyant Robert J ,Levy Steven M ,Vieira Alexandre R ,Marazita Mary L ,Shaffer John R
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منبع
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journal of human genetics - 2017 - دوره : 62 - شماره : 4 - صفحه:491 -496
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چکیده
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A recent genome-wide association study (gwas) for dental caries nominated the chromosomal region 4q21 near abcg2, pkd2 and the sibling (small integrin-binding ligand n-linked glycoprotein) gene family. in this investigation, we followed up and fine-mapped this region using a tag-snp (single-nucleotide polymorphism) approach in 13 age- and race-stratified samples from 6 independent studies (n=4089). participants were assessed for dental caries via intraoral examination and 49 tag-snps were genotyped capturing much of the variation in the 4q21 locus. linear models were used to test for genetic association, while adjusting for sex, age and components of ancestry. snps in and near pkd2 showed significant evidence of association in individual samples of black adults (rs17013735, p-value=0.0009) and white adults (rs11938025; p-value=0.0005; rs2725270, p-value=0.003). meta-analyses across black adult samples recapitulated the association with rs17013735 (p-value=0.003), which occurs at low frequency in non-african populations, possibly explaining the race specificity of the effect. in addition to race-specific associations, we also observed evidence of gene-by-fluoride exposure interaction effects in white adults for snp rs2725233 upstream of pkd2 (p=0.002). our results show evidence of regional replication, though no single variant clearly accounted for the original gwas signal. therefore, while we interpret our results as strengthening the hypothesis that chromosome 4q21 may impact dental caries, additional work is needed.
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آدرس
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University of Pittsburgh, Department of Computational and Systems Biology, USA. The College of New Jersey, 19Current address: Department of Biology, USA, University of Pittsburgh, Department of Human Genetics, Department of Biostatistics, USA, University of Pittsburgh, Department of Oral Biology, USA, University of Pittsburgh, Department of Human Genetics, Department of Pharmaceutical Sciences, Department of Psychiatry, USA, Johns Hopkins University, Department of Mental Health, USA, University of Washington, Department of Pediatric Dentistry, USA, Washington University at St Louis, Division of Genetics and Genomics, Department of Pediatrics, USA, University of Pittsburgh, Department of Medicine, USA, West Virginia University, Department of Dental Practice and Rural Health, Department of Psychology, USA, West Virginia University, Department of Periodontics, USA, University of Pittsburgh, Department of Dental Public Health and Information Management, USA, University of Iowa College of Dentistry, USA. University of Iowa College of Public Health, Department of Epidemiology, USA, University of Pittsburgh, Department of Oral Biology, USA, University of Pittsburgh, Department of Human Genetics, Department of Oral Biology, Department of Psychiatry, USA, University of Pittsburgh, Department of Human Genetics, USA
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Authors
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