The Genetics of Coronary Artery Disease: A Vascular Perspective

Cells. 2023 Sep 8;12(18):2232. doi: 10.3390/cells12182232.

Abstract

Genome-wide association studies (GWAS) have identified a large number of genetic loci for coronary artery disease (CAD), with many located close to genes associated with traditional CAD risk pathways, such as lipid metabolism and inflammation. It is becoming evident with recent CAD GWAS meta-analyses that vascular pathways are also highly enriched and present an opportunity for novel therapeutics. This review examines GWAS-enriched vascular gene loci, the pathways involved and their potential role in CAD pathogenesis. The functionality of variants is explored from expression quantitative trait loci, massively parallel reporter assays and CRISPR-based gene-editing tools. We discuss how this research may lead to novel therapeutic tools to treat cardiovascular disorders.

Keywords: CRISPR-based gene-editing tools; GWAS risk loci; coronary artery disease; expression quantitative trait loci; massively parallel reporter assay; vascular pathways.

Publication types

  • Review

MeSH terms

  • Cardiovascular Diseases* / genetics
  • Coronary Artery Disease* / metabolism
  • Genome-Wide Association Study
  • Humans
  • Quantitative Trait Loci / genetics