The 9p21.3 coronary artery disease risk locus drives vascular smooth muscle cells to an osteochondrogenic state.

ABSTRACT:

Background

Genome-wide association studies have identified common genetic variants at ~300 human genomic loci linked to coronary artery disease (CAD) susceptibility. Among these genomic regions, the most impactful is the 9p21.3 CAD risk locus, which spans a 60 kb gene desert and encompasses ~80 SNPs in high linkage disequilibrium. Despite nearly two decades since its discovery, the role of the 9p21.3 locus in cells of the vasculature remains incompletely resolved.

Methods

We differentiated induced pluripotent stem cells (iPSCs) from risk and non-risk donors at 9p21.3 into vascular smooth muscle cells. We performed single-cell transcriptomic profiling, including co-embedding and comparison with publicly available human arterial datasets. We conducted functional characterizati

SUBMITTER: Salido E 

PROVIDER: S-EPMC11160673 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature