Chromatin accessibility profiling of human coronary arteries identifes disease regulatory variants

Coronary artery disease (CAD) is a complex inflammatory disease of the vessel wall and often leads to myocardial infarction. Genome-wide association studies (GWAS) have now identified over 200 genetic loci associated with CAD. The majority of CAD-associated variants are located in noncoding regions of the genome, many of which are predicted to regulate chromatin accessibility and gene expression. In this study, we performed ATAC-seq in human coronary artery patient samples to identify novel chromatin accessibility QTLs (caQTLs) and gain additional insights into CAD regulatory mechanisms in vivo. Overall design: We profiled bulk genome-wide chromatin accessibility using ATAC-seq in coronary arteries from human patients across a range of atherosclerosis disease stages.