07Jan 2023
Genetic Regulation of SMC Gene Expression and Splicing Predict Causal CAD Genes

Genetic Regulation of SMC Gene Expression and Splicing Predict Causal CAD Genes

Coronary artery disease (CAD) is the leading cause of death worldwide. Recent meta-analyses of genome-wide association studies have identified over 175 loci associated with CAD. Given that vascular smooth muscle cells (SMCs) play critical roles in the development and progression of CAD, the study aimed to identify the subset of the CAD genome-wide association studies risk loci associated with the regulation of transcription in distinct SMC phenotypes. Notably, 20% and 35% of the eQTLs were unique to quiescent or proliferative SMCs, respectively. The most significantly associated CAD locus, 9p21, was a splice quantitative trait loci for the long noncoding RNACDKN2B-AS1, also known as ANRIL, in proliferative SMCs. These findings provide evidence for the molecular mechanisms of genetic susceptibility to CAD in distinct SMC phenotypes.

  • #cardiology

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