LIPA, a risk locus for coronary artery disease: decoding the variant-to-function relationship.

ABSTRACT:

Background and aims

Translating human genomic discoveries into mechanistic insights requires linking genetic variations to candidate genes and their causal functional phenotypes. Genome-wide association studies have consistently identified LIPA (lipase A, lysosomal acid type) as a risk locus for coronary artery disease, with previous analyses prioritising LIPA as a likely causal gene. However, functional studies elucidating causal variants, regulatory mechanisms, target cell types, and their causal impact on atherosclerosis have been lacking. This study aims to address this gap by establishing the variant-to-function relationship at the LIPA locus.

Methods

Post-genome-wide association study pipelines and molecular biology techniques, including expression quantitative trait l

SUBMITTER: Li F 

PROVIDER: S-EPMC12461605 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature