Does the 9p21 Genetic Variant Have a Role in Cardiovascular Risk Prediction?

Abstract

Genetic variation at 9p21 has been one of the strongest, most common, and most consistent genetic markers associated with cardiovascular disease. Associations with 9p21 have been replicated across multiple populations and cardiovascular disease outcomes and have even been shown with subclinical markers of atherosclerosis. 9p21 variation is also not associated with traditional cardiovascular risk factors, and thus is a natural candidate to evaluate for potential improvement in cardiovascular risk prediction. However, 9p21 variation has only shown modest, if any, improvement in assessment and prediction of cardiovascular risk. Although genetic information has led to useful biologic knowledge, it does not yet appear to be ready for incorporation into clinical cardiovascular disease risk prediction tools, nor can widespread population screening be recommended at this time.