Periodontitis Risk Variants at SIGLEC5 Impair ERG and MAFB Binding.

ABSTRACT: Periodontitis is a common complex inflammatory disease of the oral cavity. It is characterized by inflammation of gingival tissues and alveolar bone loss. Recently, a genome-wide association study and 2 genome-wide association study meta-analyses found 2 associated regions (haplotype blocks) at the inhibitory immune receptor gene SIGLEC5 to increase the risk for periodontitis. The aims of the current study were the identification of the putative causal variants underlying these associations, characterization of their molecular biological effects, and validation of SIGLEC5 as the target gene. We mapped the associated single-nucleotide polymorphisms to DNA elements with predictive features of regulatory functions and screened the associated alleles for transcription factor (TF)

SUBMITTER: Mueller R 

PROVIDER: S-EPMC9024020 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature