Regulatory elements and genetic variations in periodontal diseases

Current evidence suggests that many GWAS and IL1 SNPs are associated with periodontal diseases but their functional role remains ambiguous. Therefore, it is imperative to elucidate the molecular pathways through which these SNPs might act on the development of the disease. The purpose of this review was to highlight the regulatory elements of noncoding regions of the genome and provide insights on the functional role of periodontitis-associated GWAS and IL1 SNPs.

A search was performed using ENCODE data available on different browsers.

GWAS and IL1 SNPs overlap DNase I hypersensitivity sites, histone modifications and transcription binding sites. Some of these noncoding variants influenced the transcription activity of inflammatory genes.

SNPs associated with periodontal diseases may contribute to the development of the disorder through their functional roles. Unraveling the character of genetic components might explain the diversity of clinical phenotypes among population groups as well as disease susceptibility.