Genetic effects on chromatin accessibility uncover mechanisms of liver gene regulation and quantitative traits.

ABSTRACT: Chromatin accessibility quantitative trait locus (caQTL) studies have identified regulatory elements that underlie genetic effects on gene expression and metabolic traits. However, caQTL discovery has been limited by small sample sizes. Here, we map caQTLs in liver tissue from 138 human donors and identify caQTLs for 35,361 regulatory elements, including population-specific caQTLs driven by differences in allele frequency across populations. We identify 2126 genetic signals associated with multiple, presumably coordinately regulated elements. Coordinately regulated elements link distal elements to target genes and are more likely to be associated with gene expression compared with single-element caQTLs. We predict driver and response elements at coordinated loci and find that driver elemen

SUBMITTER: Currin KW 

PROVIDER: S-EPMC12212085 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature