Gene-Based Association Mapping for Dental Caries in The GENEVA Consortium

Dental caries is a multifactorial disease with high prevalence in both children and adults. Recent genome-wide association studies (GWASs) have revealed that genetic factors play an important role in caries incidence. However, existing methods are not sufficient to identify caries-associated genes, due to the complex correlation structure of caries GWAS data, and lack of appropriate summarization at the gene level. This paper attempts to address that by analyzing data from the Gene, Environment Association Studies (GENEVA) consortium.

We investigated gene-based genetic associations for dental caries based on genome-wide data derived from the GENEVA database, with adjustment to covariates, linkage disequilibrium among single-nucleotide polymorphisms, and family relations, in sampled individuals.

Several suggestive genes were identified, in which some of them have been previously found to have potential biological functions on cariogenesis.

By comparing the gene sets identified from gene-based and SNP-based association testing methods, we found a non-negligible overlap, which indicates that our gene-based analysis can provide substantial supplement to the traditional GWAS analysis.