Nakai K, Itoh C, Miura Y, Musya T, Hotta K, Hiramori K
2nd Department of Internal Medicine, Iwate Medical University, Morioka.
Rinsho Byori. 1994 Jul;42(7):689-94.
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 diseases. Previous studies showed that deletion polymorphism in the ACE gene might be a risk factor for myocardial infarction in the Caucasian population. However, this finding has not yet been reported in the Japanese population. In this study, a 287 base pair (bp) insertion/deletion polymorphism in intron 16 of the ACE gene was examined by polymerase chain reaction (PCR) in a cross-sectional study of 35 healthy subjects and 85 patients with ischemic heart diseases (IHD) (32 angina pectoris, 53 myocardial infarction). Polymorphism of the ACE gene was characterized by three genotypes; two deletion alleles (genotype DD), two insertion allele (genotype II) and heterozygotes alleles (genotype ID). No differences could be detected among the three genotypes for total cholesterol, high-density lipoprotein cholesterol, blood pressure and body mass index. The serum ACE activities in each II, ID and DD genotype were 10.1 +/- 2.1 microU/ml, 13 +/- 3.2 microU/ml, 14.2 +/- 5.4 microU/ml, respectively. In the population study the genotype DD was significantly associated with IHD when compared with the other two genotypes (ID and II). The frequency of deletion allele was higher (0.61) in the IHD group than in the normals (0.39) (chi 2 = 7.8, p < 0.01). These frequencies were not varied whether they had classic risk factors or not. Furthermore, coronary multivessel impairment was significantly associated with the deletion allele than with the insertion allele (chi 2 = 11.7, p < 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)
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。先前的研究表明,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得到报道。在本研究中,通过聚合酶链反应(PCR)对35名健康受试者和85名缺血性心脏病(IHD)患者(32例心绞痛、53例心肌梗死)进行横断面研究,检测了ACE基因第16内含子中287个碱基对(bp)的插入/缺失多态性。ACE基因多态性由三种基因型表征;两个缺失等位基因(基因型DD)、两个插入等位基因(基因型II)和杂合子等位基因(基因型ID)。在总胆固醇、高密度脂蛋白胆固醇、血压和体重指数方面,三种基因型之间未检测到差异。II、ID和DD基因型的血清ACE活性分别为10.1±2.1微单位/毫升、13±3.2微单位/毫升、14.2±5.4微单位/毫升。在人群研究中,与其他两种基因型(ID和II)相比,基因型DD与IHD显著相关。IHD组中缺失等位基因的频率(0.61)高于正常组(0.39)(χ2=7.8,p<0.01)。无论他们是否有经典危险因素,这些频率都没有变化。此外,冠状动脉多支病变与缺失等位基因的相关性显著高于插入等位基因(χ2=11.7,p<0.01)。(摘要截断于250字)