Nakai K, Itoh C, Miura Y, Hotta K, Musha T, Itoh T, Miyakawa T, Iwasaki R, Hiramori K
Second Department of Internal Medicine, Iwate Medical University, Morioka, Japan.
Circulation. 1994 Nov;90(5):2199-202. doi: 10.1161/01.cir.90.5.2199.
The angiotensin I-converting enzyme (ACE) is a key component of the renin-angiotensin system thought to be important in the pathogenesis of hypertension and cardiovascular disease. Deletion polymorphism in the ACE gene may be a risk factor for myocardial infarction in the Caucasian population. However, this finding has not yet been investigated in the Japanese population.
A 287-bp insertion/deletion polymorphism in intron 16 of the ACE gene was examined by polymerase chain reaction in a cross-sectional study of 100 healthy subjects and 178 patients with coronary artery disease (CAD) (70 angina pectoris, 108 myocardial infarction), whose serum ACE levels were concomitantly measured. Polymorphism of the ACE gene was characterized by three genotypes: two deletion alleles (genotype DD), two insertion alleles (genotype II), and heterozygous alleles (genotype ID). No differences could be detected among the three genotypes for total cholesterol, HDL cholesterol, and body mass index. Serum ACE levels were 11.4 +/- 2.7, 14.5 +/- 3.5, and 16.6 +/- 4.6 IU/mL for genotypes II, ID, and DD, respectively. In the study population, the genotype DD was more closely associated with CAD than the other two genotypes (ID and II). The frequency of deletion alleles was higher (0.58) in the CAD group than in healthy control subjects (0.42) (P < .05). Furthermore, multivessel disease was more strongly associated with deletion alleles than with insertion alleles (P < .05).
A deletion polymorphism of the ACE gene is associated with serum ACE activity and increased risk for CAD in the Japanese.
血管紧张素I转换酶（ACE）是肾素-血管紧张素系统的关键组成部分，被认为在高血压和心血管疾病的发病机制中起重要作用。ACE基因的缺失多态性可能是白种人群中心肌梗死的一个危险因素。然而，这一发现尚未在日本人群中进行研究。
在一项横断面研究中，对100名健康受试者和178例冠状动脉疾病（CAD）患者（70例心绞痛、108例心肌梗死）进行聚合酶链反应检测ACE基因第16内含子的287 bp插入/缺失多态性，并同时检测其血清ACE水平。ACE基因多态性表现为三种基因型：两个缺失等位基因（基因型DD）、两个插入等位基因（基因型II）和杂合等位基因（基因型ID）。在总胆固醇、高密度脂蛋白胆固醇和体重指数方面，三种基因型之间未检测到差异。基因型II、ID和DD的血清ACE水平分别为11.4±2.7、14.5±3.5和16.6±4.6 IU/mL。在研究人群中，基因型DD与CAD的关联比其他两种基因型（ID和II）更为密切。CAD组中缺失等位基因的频率（0.58）高于健康对照组（0.42）（P<.05）。此外，多支血管病变与缺失等位基因的关联比与插入等位基因更强（P<.05）。
ACE基因的缺失多态性与日本人群的血清ACE活性及CAD风险增加相关。
