Genetics of Coronary Disease

Both genetic and environmental factors contribute to the different biological processes which underlie clinical coronary artery disease (CAD), including atherosclerosis, thrombosis, myocardial infarction, and death. Family history and twin concordance studies consistently demonstrate that CAD is heritable with a significant polygenic component. Elevated cholesterol, blood pressure, and glucose only explain a modest portion of CAD risk and are heritable traits themselves. As a common disease, genetic variants that are highly prevalent in human populations would be expected to contribute to CAD. Since 2007, genome-wide association studies have helped map more than 50 common genetic susceptibility variants for CAD phenotypes. Although some are in genes contributing to the presence of traditional risk factors, most of these variants are in or near novel genes previously not known to be associated with CAD. The challenge remains to determine exactly how genetic variants contribute to CAD so we can better understand the biological mechanisms involved and devise better and more targeted therapeutic and preventive approaches.