Beyond genome-wide association studies: Investigating the role of noncoding regulatory elements in primary sclerosing cholangitis.

ABSTRACT:

Background

Genome-wide association studies (GWAS) have identified 30 risk loci for primary sclerosing cholangitis (PSC). Variants within these loci are found predominantly in noncoding regions of DNA making their mechanisms of conferring risk hard to define. Epigenomic studies have shown noncoding variants broadly impact regulatory element activity. The possible association of noncoding PSC variants with regulatory element activity has not been studied. We aimed to (1) determine if the noncoding risk variants in PSC impact regulatory element function and (2) if so, assess the role these regulatory elements have in explaining the genetic risk for PSC.

Methods

Available epigenomic datasets were integrated to build a comprehensive atlas of cell type-specific regulatory elements

SUBMITTER: Pratt HE 

PROVIDER: S-EPMC10531193 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature