Genetics of ACS and recurrent MI/cardiac death: are we getting to the heart of the (atherosclerotic) matter?

Abstract

This editorial refers to ‘A variant at chromosome 9p21 is associated with recurrent myocardial infarction and cardiac death after acute coronary syndrome: The GRACE Genetics Study’, by I. Buysschaert et al. doi:10.1093/eurheartj/ehq053 Coronary artery disease (CAD) is still the most frequent cause of death in Western societies. It is now widely accepted that the classic environmental risk factors for atherosclerosis only partly explain the incidence of CAD and the development of acute coronary syndromes (ACS). Genetic factors that vary among human populations seem to be involved in the clinical manifestations of such patients.1,2 Substantial data already showed that genetic variation is likely to influence CAD both directly and through effects on known CAD risk factors, such as hypertension and diabetes. Despite extensive research efforts for more than a decade, the genetic basis of CAD remains largely unknown. Although there have been notable successes, linkage and candidate gene association studies have often failed to deliver definitive results.3,4 However, advances are now being made through the application of large-scale, systematic, genome-wide approaches. Due to the HapMap resource, which documents patterns of genome-wide variation and linkage disequilibrium (LD), association studies are being facilitated in terms of both the design and the analysis. Furthermore the availability of dense genotyping chips make it possible that genome-wide association studies are technically and financially possible. In this way genetics can serve as new risk targets and help to stratify patients at risk for CAD. Figure 1 shows the role of genetic testing. Moreover, recently it has been shown that genetic testing is not only useful in disease genetics, but nowadays studies also concentrate on the role of pharmacogenetics. Pharmacogenetics is the search for … *Corresponding author. Tel: +31 (71) 526 2020, Fax: +31 (71) 526 6809, Email: j.w.jukema{at}lumc.nl