Polygenic Risk Scores for Cardiovascular Disease

Published: July 18, 2022

Colorful image of a DNA double helix
  • Cardiovascular disease is the leading cause of death and disability worldwide, yet risk prediction is imprecise and has historically relied on clinical risk factors synthesized from large cohorts of patients. Incorporation of genetics into risk prediction can help improve outcomes.
  • Variants of single genes, or monogenic variants that are linked to inheritance of cardiovascular disease are typically rare and confer a large risk of disease. One such disease is familial hypercholesterolemia. Improved ability to identify genetic variants and their association with phenotypic traits in genome-wide association studies (GWAS), shows that many cardiometabolic diseases are associated with single nucleotide variants (SNVs) in multiple genes.
  • Polygenic risk scores (PRS), or weighted summations of risk conferred by multiple disease associated SNVs, are emerging as tools to improve prediction of common, complex cardiovascular diseases. This scientific statement summarizes the state of the science of PRS for CVD and identifies directions for future work.