The genetics of coronary heart disease

Coronary heart disease (CHD) is one of the major causes of morbidity and mortality in westernized countries, and the contribution of genetics to CHD has already been demonstrated by twin studies. In the context of pathophysiologically relevant regulatory systems, various groups of candidate genes are involved in cardiovascular pathophysiology, which emphasizes the need for so-called 'high-throughput techniques' for the detection of polymorphisms. In view of genetic variability, we need to define realistic and clear-cut genotype-phenotype relationships. This may be achieved by using in vitro and in vivo studies to evaluate the potential functionalities of identified polymorphisms and by creating appropriate tools to provide relevant phenotypes. The identification of relevant genes and genetic variants involved in the different pathophysiological steps leading to CHD may considerably improve our understanding of the mechanisms of the disease course. This may help to identify high-risk individuals and groups or subgroups in whom specific therapeutic interventions are indicated or necessary, leading to individually adapted clinical management.