Expanded Chromatin Accessibility Mapping Explains Genetic Variation Associated with Complex Traits in Liver.

ABSTRACT: Genome-wide association studies (GWAS) have identified thousands of loci associated with a variety of common, complex human traits. Recent efforts have focused on characterizing chromatin accessibility to discover regulatory elements that modify the expression of nearby genes, suggesting that trait associations are mediated through changes in gene regulation. Genetic variants associated with differences in chromatin accessibility, known as chromatin accessibility quantitative trait loci (caQTLs), are established contributors to gene expression differences, providing mechanistic hypotheses for signals identified by GWAS. Using the assay for transposase-accessible chromatin with sequencing (ATAC-seq), we assessed chromatin accessibility in 189 diverse human liver samples, identifying over tw

SUBMITTER: Wenz BM 

PROVIDER: S-EPMC12458524 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature