Genome-wide association study identifies novel caries-associated loci showing sex-specificity—A study on the Northern Finland Birth Cohort 1966

A genome-wide association study was performed in sex-stratified groups representing three different caries phenotypes among adults. The study sample consisted of 46-year-old participants of the Northern Finland Birth Cohort 1966 study (n = 1481). The phenotypes for analyses were the dentin caries phenotype (persons having at least one tooth with dentin caries lesion), and the enamel caries phenotype (those having teeth with more than 10 enamel caries lesions), while the control group had <10 enamel caries lesions and no teeth with dentin caries, respectively. A third phenotype dubbed the caries severity phenotype had a below-average number of teeth with initial lesions and at least one extensive dentin caries lesion; their controls had an above-average number of teeth with initial caries lesions and no teeth with extensive dentin caries lesions. All analyses were performed for the whole group and for sex-stratified subgroups. In females, loci in chromosomes 2, 5, and 15 showed a statistically significant association with caries severity. In males, there was a novel association between chromosome 5 and dentin caries. The results of this study may suggest a genetic background of caries among adults. In the future, the detection of genetic predisposing variants may allow the identification of patients at risk for caries, even in the absence of behavioral and environmental risk factors.