ACE-gen-polymorphismus und kardiovaskulare erkrankungen

The angiotensin converting enzyme (ACE) is an integral part of enzymatic cascades leading to generation of angiotensin II as well as degradation of bradykinin. For this reason, it represents an important part for the metabolism of 2 vasoactive peptides. Early in this decade, convincing experimental evidence demonstrated the induction of this enzyme in several pathophysiological conditions including myocardial infarction and left ventricular hypertrophy. In parallel, a deletion/insertion (D/I) polymorphism of the human ACE gene was discovered that was related to 14 to 50% of the interindividual variance of serum ACE activity. More recently, this polymorphism was implicated in the pathogenesis of a variety of cardiovascular disorders including myocardial infarction, left ventricular hypertrophy, hypertension as well as nephropathy. The genotyping of more than 100,000 patients for this polymorphism showed that some of theses conditions establish a low but sometimes inconsistent relation to the deletion allele. These inconsistent results might be caused either by further polymorphisms of the ACE-gene (so far 78 such DNA variants are known) or by polymorphisms of other components or the negative feedback regulation of the renin angiotensin system. Therefore, the pathopysiological situation is much more complex as initially presumed. This paper intends to reflect the current evidence on the relation between the ACE deletion/insertion polymorphism and cardiovascular diseases.