PCSK9 R46L carriers have lower levels of lipoprotein(a) and LDL cholesterol as well as reduced risk of aortic valve stenosis and myocardial infarction.
In search of genetic markers of myocardial infarction (MI) risk, which have prognostic significance for Russians, we performed a replication study of MI association with genetic variants of <i>PCSK9</i> (rs562556), <i>APOE</i> (epsilon polymorphism, rs7412 and rs429358), <i>LPL</i> (rs320), <i>MTHFR</i> (rs1801133), <i>eNOS</i> (rs2070744), and the 9p21 region (rs1333049) in 405 patients with MI and 198 controls.
With respect to PCSK9, E32K carriers showed higher LDL-cholesterol levels and younger age of onset for MI, whereas R93C carriers had lower LDL-cholesterol levels.