Coronary Artery Disease Risk Variant rs6903956 Links to Endothelial Dysfunction via <i>PHACTR1</i> Regulation.

ABSTRACT: Ischemic heart disease, particularly coronary artery disease (CAD), remain leading causes of mortality worldwide. The single nucleotide polymorphism rs6903956 on chromosome 6p24.1 has been identified as a susceptibility locus for CAD in East Asian populations through genome-wide association studies. However, its functional role has not been fully elucidated. This study investigates the mechanistic basis of rs6903956 and its contribution to CAD pathogenesis, focusing on endothelial cell dysfunction. We first conducted cohort studies, revealing an association between the rs6903956 'A' risk allele and blood pressure phenotypes, along with impaired endothelial responsiveness indicated by reduced flow-mediated dilation. Single-base editing of induced pluripotent stem cell-derived endothelial ce

SUBMITTER: Tay KY 

PROVIDER: S-EPMC12247873 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature