Raynolds M V, Bristow M R, Bush E W, Abraham W T, Lowes B D, Zisman L S, Taft C S, Perryman M B
Division of Cardiology, Temple Hoyne Buell Heart Center Laboratories, University of Colorado Health Sciences Center, Denver 80262.
Lancet. 1993 Oct 30;342(8879):1073-5. doi: 10.1016/0140-6736(93)92061-w.
Polymorphism in the angiotensin-converting enzyme (ACE) gene has been shown to correlate with circulating ACE concentrations, and also to be an independent risk factor for the development of myocardial infarction, particularly in men thought to be at low risk by standard criteria. We determined the genotypes of individuals with end-stage heart failure due to either ischaemic dilated cardiomyopathy (102) or idiopathic dilated cardiomyopathy (112) and compared these to organ donors with normally functioning hearts (79). Genotypes were determined by the polymerase chain reaction with oligonucleotide primers flanking the polymorphic region in intron 16 of the ACE gene to amplify template DNA isolated from patients. Compared with the DD frequency in the control population, the frequency of the ACE DD genotype was 48% higher in individuals with idiopathic dilated cardiomyopathy (p = 0.008) and 63% higher in subjects with ischaemic cardiomyopathy (p = 0.008), suggesting that an ACE gene variant may contribute to the pathogenesis of both types of cardiomyopathy.
血管紧张素转换酶（ACE）基因多态性已被证明与循环ACE浓度相关，并且也是心肌梗死发生的独立危险因素，特别是在标准标准认为低风险的男性中。我们确定了因缺血性扩张型心肌病（102例）或特发性扩张型心肌病（112例）导致终末期心力衰竭的个体的基因型，并将其与心脏功能正常的器官捐献者（79例）进行比较。通过聚合酶链反应，使用位于ACE基因第16内含子多态性区域两侧的寡核苷酸引物来确定基因型，以扩增从患者分离的模板DNA。与对照人群中的DD频率相比，特发性扩张型心肌病个体中ACE DD基因型的频率高出48%（p = 0.008），缺血性心肌病患者中高出63%（p = 0.008），这表明ACE基因变异可能在两种类型心肌病的发病机制中起作用。
