In 2007, the first genetic risk variant, 9p21, was simultaneously discovered by two independent groups. 9p21 increases the risk of coronary artery disease in individuals with premature heart disease by twofold, and in the overall population the heterozygote is associated with a 25% increased risk and the homozygote with a 50% increased risk. It is of note that the risk mediated by 9p21 is independent of known risk factors. Since then, with the development of new technologies and the international consortium of CARDIoGRAM, there is now a total of 50 genetic risk variants confirmed and replicated for CAD. Of these 50, 35 mediate their risk by unknown mechanisms, indicating that the pathogenesis of atherosclerosis and myocardial infarction is due to additional factors as yet unknown. The role of genetic risk factors in the management of CAD is yet to be determined. Since many of them are independent of known risk factors, the genetic risk will in the future have to be incorporated into the guidelines, which recommend the target level of plasma LDL-C to be achieved based on the number of risk factors.
Keywords: GWAS; coronary artery disease; genetic risk variants; genome; genome-wide association studies; single nucleotide polymorphisms.