Glucocorticoids unmask silent non-coding genetic risk variants for common diseases.

ABSTRACT: Understanding the function of non-coding genomic sequence variants represents a challenge for biomedicine. Many diseases are products of gene-by-environment interactions with complex mechanisms. This study addresses these themes by mechanistic characterization of non-coding variants that influence gene expression only after drug or hormone exposure. Using glucocorticoid signaling as a model system, we integrated genomic, transcriptomic, and epigenomic approaches to unravel mechanisms by which variant function could be revealed by hormones or drugs. Specifically, we identified cis-regulatory elements and 3D interactions underlying ligand-dependent associations between variants and gene expression. One-quarter of the glucocorticoid-modulated variants that we identified had already been assoc

SUBMITTER: Nguyen TTL 

PROVIDER: S-EPMC9723631 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature