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dc.contributor.authorWang, Xiaojing
dc.contributor.authorShaffer, John R
dc.contributor.authorZeng, Zhen
dc.contributor.authorBegum, Ferdouse
dc.contributor.authorVieira, Alexandre R
dc.contributor.authorNoel, Jacqueline
dc.contributor.authorAnjomshoaa, Ida
dc.contributor.authorCuenco, Karen T
dc.contributor.authorLee, Myoung-Keun
dc.contributor.authorBeck, James C
dc.contributor.authorBoerwinkle, Eric
dc.contributor.authorCornelis, Marilyn
dc.contributor.authorHu, Frank B.
dc.contributor.authorCrosslin, David R
dc.contributor.authorLaurie, Cathy C
dc.contributor.authorDoheny, Kimberly F
dc.contributor.authorPugh, Elizabeth W
dc.contributor.authorPolk, Deborah E
dc.contributor.authorWeyant, Robert J
dc.contributor.authorCrout, Richard
dc.contributor.authorMcNeil, Daniel W
dc.contributor.authorWeeks, Daniel E
dc.contributor.authorFeingold, Eleanor
dc.contributor.authorMarazita, Mary L
dc.contributor.authorNelson, Sarah C
dc.date.accessioned2013-09-14T15:32:41Z
dc.date.issued2012
dc.identifier.citationWang, Xiaojing, John R Shaffer, Zhen Zeng, Ferdouse Begum, Alexandre R Vieira, Jacqueline Noel, Ida Anjomshoaa, et al. 2012. Genome-wide association scan of dental caries in the permanent dentition. BMC Oral Health 12:57.en_US
dc.identifier.issn1472-6831en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:11029507
dc.description.abstractBackground: Over 90% of adults aged 20 years or older with permanent teeth have suffered from dental caries leading to pain, infection, or even tooth loss. Although caries prevalence has decreased over the past decade, there are still about 23% of dentate adults who have untreated carious lesions in the US. Dental caries is a complex disorder affected by both individual susceptibility and environmental factors. Approximately 35-55% of caries phenotypic variation in the permanent dentition is attributable to genes, though few specific caries genes have been identified. Therefore, we conducted the first genome-wide association study (GWAS) to identify genes affecting susceptibility to caries in adults. Methods: Five independent cohorts were included in this study, totaling more than 7000 participants. For each participant, dental caries was assessed and genetic markers (single nucleotide polymorphisms, SNPs) were genotyped or imputed across the entire genome. Due to the heterogeneity among the five cohorts regarding age, genotyping platform, quality of dental caries assessment, and study design, we first conducted genome-wide association (GWA) analyses on each of the five independent cohorts separately. We then performed three meta-analyses to combine results for: (i) the comparatively younger, Appalachian cohorts (N = 1483) with well-assessed caries phenotype, (ii) the comparatively older, non-Appalachian cohorts (N = 5960) with inferior caries phenotypes, and (iii) all five cohorts (N = 7443). Top ranking genetic loci within and across meta-analyses were scrutinized for biologically plausible roles on caries. Results: Different sets of genes were nominated across the three meta-analyses, especially between the younger and older age cohorts. In general, we identified several suggestive loci (P-value ≤ 10E-05) within or near genes with plausible biological roles for dental caries, including RPS6KA2 and PTK2B, involved in p38-depenedent MAPK signaling, and RHOU and FZD1, involved in the Wnt signaling cascade. Both of these pathways have been implicated in dental caries. ADMTS3 and ISL1 are involved in tooth development, and TLR2 is involved in immune response to oral pathogens. Conclusions: As the first GWAS for dental caries in adults, this study nominated several novel caries genes for future study, which may lead to better understanding of cariogenesis, and ultimately, to improved disease predictions, prevention, and/or treatment.en_US
dc.language.isoen_USen_US
dc.publisherBioMed Centralen_US
dc.relation.isversionofdoi:10.1186/1472-6831-12-57en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3574042/pdf/en_US
dash.licenseLAA
dc.subjectDental cariesen_US
dc.subjectGeneticsen_US
dc.subjectGenome wide associationen_US
dc.subjectPermanent dentitionen_US
dc.subjectGenomicsen_US
dc.titleGenome-wide association Scan of dental caries in the permanent dentitionen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalBMC Oral Healthen_US
dash.depositing.authorHu, Frank B.
dc.date.available2013-09-14T15:32:41Z
dc.identifier.doi10.1186/1472-6831-12-57*
dash.authorsorderedfalse
dash.contributor.affiliatedNelson, Sarah
dash.contributor.affiliatedCornelis, Marilyn
dash.contributor.affiliatedHu, Frank


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