Genome-wide Association Studies of Pit-and-Fissure- and Smooth-surface Caries in Permanent Dentition
Year: 2013
Type: article
Study design: Observational Study
Abstract: While genetics clearly influences dental caries risk, few caries genes have been discovered and validated. Recent studies have suggested differential genetic factors for primary dentition caries and permanent dentition caries, as well as for pit-and-fissure- (PF) and smooth- (SM) surface caries. We performed separate GWAS for caries in permanent-dentition PF surfaces (1,017 participants, adjusted for age, sex, and the presence of Streptococcus mutans) and SM surfaces (1,004 participants, adjusted for age, education group, and the presence of Streptococcus mutans) in self-reported whites (ages 14 to 56 yrs). Caries scores were derived based on visual assessment of each surface of each tooth; more than 1.2 million SNPs were either successfully genotyped or imputed and were tested for association. Two homologous genes were suggestively associated: BCOR (Xp11.4) in PF-surface caries (p value = 1.8E-7), and BCORL1 (Xq26.1) in SM-surface caries (p value = 1.0E-5). BCOR mutations cause oculofaciocardiodental syndrome, a Mendelian disease involving multiple dental anomalies. Associations of other plausible cariogenesis genes were also observed for PF-surface caries (e.g., INHBA, p value = 6.5E-6) and for SM-surface caries (e.g., CXCR1 and CXCR2, p value = 1.9E-6). This study supports the notion that genes differentially affect cariogenesis across the surfaces of the permanent dentition, and nominates several novel genes for investigation.
Source: Journal of Dental Research
Institutions: University of Pittsburgh, West Virginia University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Awards: Dental Caries: Whole Genome Association and Gene x Environment Studies, Factors Contributing to Oral Health Disparities in Appalachia, Genome Wide Association Coordinating Center, University of Pittsburgh Clinical and Translational Science Institute, Statistical Modeling and Genetic Epidemiology of Dental Caries in GWAS Analysis, G8267674335
OpenAlex ID: W2008972499
