Ontology highlight
ABSTRACT:
Conclusions:Our findings show that common LIPA exonic variants in the signal peptide are of minimal functional significance and suggest coronary artery disease risk is instead associated with increased LIPA function linked to intronic variants. Understanding the mechanisms and cell-specific contexts of LIPA function in the plaque is necessary to understand its association with cardiovascular risk.
SUBMITTER: Evans TD
PROVIDER: S-EPMC7050600 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Arteriosclerosis, thrombosis, and vascular biology 20191024 12
<h4>Objective</h4>LIPA (lysosomal acid lipase) mediates cholesteryl ester hydrolysis, and patients with rare loss-of-function mutations develop hypercholesterolemia and severe disease. Genome-wide association studies of coronary artery disease have identified several tightly linked, common intronic risk variants in <i>LIPA</i> which unexpectedly associate with increased mRNA expression. However, an exonic variant (rs1051338 resulting in T16P) in linkage with intronic variants lies in the signal ...[more]