Functional Validation of a Common Nonsynonymous Coding Variant in <i>ZC3HC1</i> Associated With Protection From Coronary Artery Disease

Abstract

These findings extend the genetic association between rs11556924 and coronary artery disease risk by characterizing its effects on the encoded protein, NIPA. The resulting amino acid change Arg363His is associated with increased expression and nuclear mobility, as well as lower rates of cell growth in HeLa cells, further supporting a role for cell proliferation in atherosclerosis and its clinical consequences.