Polymorphisms in the RAS and cardiac functionPinto, YM. & van Berlo, J. H., Jun-2003, In : International journal of biochemistry & cell biology. 35, 6, p. 932-943 12 p.
Research output: Contribution to journal › Review article › Academic › peer-review
Since the discovery of the polymorphism in the angiotensin converting enzyme (ACE) and the consequences of this polymorphism on the activity levels of the enzyme, numerous association studies have been performed. However, these investigations do not often adhere to the most stringent criteria for such studies. The initial study reporting a positive association of the ACE polymorphism and myocardial infarction showed an increased risk of the DD genotype. This initial association was eventually refuted by a large, well conducted association study, which found a risk ratio of 1.02 after combining their own data with all published data. Although such large, well conducted association studies have not been performed in left ventricular (LV) hypertrophy, the association between DD genotype and hypertrophy is more convincing with a 192% excess risk of LV hypertrophy in untreated hypertensives. The role of ACE genotype in LV growth is well established, especially in athletes. In heart failure, large studies or meta-analyses have not been performed, because most studies have selected different end-points. This hampers a proper meta-analysis of the results obtained in associations with heart failure. As most association studies do not fulfill the criteria for good association studies and use too small sample sizes, it remains important to perform a meta-analysis to add meaning to the results of such studies. Above all, it is important to obey the rules set for association studies, large sample size, small P values, report associations that make biological sense and alleles that affect the gene product in a physiologically meaningful way. (C) 2003 Elsevier Science Ltd. All rights reserved.
|Number of pages||12|
|Journal||International journal of biochemistry & cell biology|
|Publication status||Published - Jun-2003|
- myocardial infarction, heart failure, left ventricular hypertrophy, RAS, polymorphism, ANGIOTENSIN-CONVERTING-ENZYME, LEFT-VENTRICULAR HYPERTROPHY, CORONARY-ARTERY DISEASE, IDIOPATHIC DILATED CARDIOMYOPATHY, ACE-GENE POLYMORPHISM, TYPE-1 RECEPTOR GENE, ISCHEMIC-HEART-DISEASE, INSERTION DELETION POLYMORPHISM, MYOCARDIAL-INFARCTION, ESSENTIAL-HYPERTENSION