Functional Analysis of a Novel Genome-Wide Association Study Signal in <i>SMAD3</i> That Confers Protection From Coronary Artery Disease

Abstract

The coronary artery disease-associated rs17293632C>T single nucleotide polymorphism represents a novel functional cis-acting element at the SMAD3 locus. The protective (T) allele of rs17293632 disrupts a consensus AP-1 binding site in a SMAD3 intron 1 enhancer, reduces enhancer activity and SMAD3 expression, altering human arterial smooth muscle cell proliferation.