Takahashi K, Nakamura H, Kubota I, Takahashi N, Tomoike H
First Department of Internal Medicine, Yamagata University School of Medicine, Japan.
Jpn Heart J. 1995 Sep;36(5):557-64. doi: 10.1536/ihj.36.557.
The insertion/deletion DNA polymorphism of the gene coding human angiotensin converting enzyme (ACE) was examined in 109 patients with coronary artery disease (CAD) and 93 non-coronary subjects (NCS) living in a northern part of Japan. The presence of risk factors including age, hypertension, hypercholesterolemia, tobacco use, diabetes mellitus and hyperuricemia were also examined. An insertion (I) / deletion (D) polymorphism of the ACE gene was determined by the polymerase chain reaction with oligonucleotide primers encompassing the polymorphic region in intron 16. The template DNA was isolated from peripheral blood leukocytes of patients. The frequency of the D-allele in NCS was 0.27, significantly lower than that reported in Caucasians or in Japanese living in the Osaka area. The frequency of the D-allele in patients with myocardial infarction (MI) and angina pectoris was 0.39 and was higher than that in NCS. The frequencies of genotypes DD, ID, and II were 17.8, 43.3 and 38.9%, respectively, in CAD except in young patients (below 40 years of age) with MI and AP groups, and 6.5, 40.9 and 52.7%, respectively in NCS (p < 0.05 between CAD and NCS). Young MI showed similar frequencies in ACE gene polymorphisms to those in NCS, a pattern which differed from that seen in subjects with CAD (p < 0.05). The numbers of risk factors did not alter the frequency of ACE gene genotype among patients with CAD, however, in normotensives, the odds ratio of DD-genotype was significantly increased to 3.4. Accordingly, ACE gene polymorphism may be associated with morbidity from CAD in Japanese living in northern Japan as has been noted in Caucasians, despite the lower frequencies of the D-allele in the Japanese population.
在日本北部的109例冠状动脉疾病（CAD）患者和93例非冠状动脉疾病受试者（NCS）中，检测了编码人血管紧张素转换酶（ACE）基因的插入/缺失DNA多态性。还检查了包括年龄、高血压、高胆固醇血症、吸烟、糖尿病和高尿酸血症在内的危险因素的存在情况。通过聚合酶链反应，使用包含第16内含子多态性区域的寡核苷酸引物，确定ACE基因的插入（I）/缺失（D）多态性。模板DNA从患者外周血白细胞中分离。NCS中D等位基因的频率为0.27，显著低于白种人或居住在大阪地区的日本人报道的频率。心肌梗死（MI）和心绞痛患者中D等位基因的频率为0.39，高于NCS。在CAD患者中，除了MI和AP组的年轻患者（40岁以下）外，基因型DD、ID和II的频率分别为17.8%、43.3%和38.9%，在NCS中分别为6.5%、40.9%和52.7%（CAD和NCS之间p<0.05）。年轻MI患者ACE基因多态性的频率与NCS相似，这一模式与CAD患者不同（p<0.05）。CAD患者中危险因素的数量并未改变ACE基因基因型的频率，然而，在血压正常者中，DD基因型的优势比显著增加至3.4。因此，尽管日本人群中D等位基因的频率较低，但ACE基因多态性可能与居住在日本北部的日本人患CAD的发病率有关，这一点在白种人中也已得到证实。
