Single-Cell Epigenomics and Functional Fine-Mapping of Atherosclerosis GWAS Loci

Genome-wide association studies have identified hundreds of loci associated with coronary artery disease (CAD). Many of these loci are enriched in cisregulatory elements but not linked to cardiometabolic risk factors nor to candidate causal genes, complicating their functional interpretation. Single-nucleus chromatin accessibility profiling of the human atherosclerotic lesions was used to investigate cell type–specific patterns of cisregulatory elements, to understand transcription factors establishing cell identity, and to interpret...