Monogenic Risk for Cardiovascular Disease

Nathan O. Stitziel, MD, PhD Assistant Professor of Medicine and Genetics Washington University School of Medicine Saint Louis, MO

Individual mutations in several genes can dramatically alter risk for cardiovascular disease. Some of these, such as mutations in LDLR associated with Familial Hypercholesterolemia, confer substantially increased risk for disease while others, such as mutations in PCSK9 associated with low LDL cholesterol, confer substantially decreased risk for disease. Human genetic studies to identify genes like LDLR and PCSK9 that are associated with monogenic risk of cardiovascular disease have provided key insights into human biology, disease pathophysiology, and relevant therapeutic targets. A recent study now confirms ANGPTL3 as a new monogenic form of protection from coronary disease, suggesting that therapies targeting ANGPTL3 may be effective in the prevention or treatment of coronary disease.