Functional dissection of metabolic trait-associated gene regulation in steady state and stimulated human skeletal muscle cells.

ABSTRACT: Type 2 diabetes (T2D) is a common metabolic disorder characterized by dysregulation of glucose metabolism. Genome-wide association studies have defined hundreds of signals associated with T2D and related metabolic traits, predominantly in noncoding regions. While pancreatic islets have been a focal point given their central role in insulin production and glucose homeostasis, other metabolic tissues, including liver, adipose, and skeletal muscle, also contribute to T2D pathogenesis and risk. Here, we examined context-specific genetic regulation under basal and stimulated states. Using LHCN-M2 human skeletal muscle cells, we generated transcriptomic profiles and characterized regulatory activity of 327 metabolic trait-associated variants via a massively parallel reporter assay (MPRA). To ide

SUBMITTER: Nishino K 

PROVIDER: S-EPMC11642805 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature