Association of Mutations in the Apolipoprotein B Gene with Hypercholesterolemia and the Risk of Ischemic Heart Disease

Elevated plasma low-density lipoprotein (LDL) cholesterol levels are causally related to ischemic heart disease, 1 , 2 and a reduction in these levels reduces the incidence of ischemic heart disease 3 – 5 and the associated mortality rate. 3 , 4 Elevated LDL cholesterol levels may be caused by decreased removal of LDL from plasma, as a result of either mutations in the LDL-receptor gene, as in classic familial hypercholesterolemia, 6 or mutations in the apolipoprotein B ( APOB ) gene that affect the binding of LDL to the LDL receptor. Apolipoprotein B is the chief protein component of LDL and serves as the ligand for the . . .