血管紧张素转换酶基因多态性与中国人冠心病的关联研究

Association of angiotensin converting enzyme gene polymorphism with coronary heart disease in Chinese

目的探讨血管紧张素转换酶（ＡＣＥ）基因多态性在中国人冠心病发生发展中的作用。方法应用聚合酶链反应技术和遗传学方法，测定１５９例中国汉族正常人、１４８例冠心病患者的ＡＣＥ基因插入／缺失（Ｉ／Ｄ）多态性频率。结果（１）中国汉族正常人ＤＤ、ＩＤ、Ｉ基因型频率分别为０１５７、０５３５和０３０８；（２）冠心病组及其心肌梗塞、心绞痛亚组ＡＣＥ基因型分布与正常人相比差异均有显著性（Ｐ＜００５），其ＤＤ型频率分别为０２６４、０２７８和０２５０，均显著高于正常人（Ｐ＜００５）；（３）冠状动脉造影确诊的冠心病患者ＡＣＥＤＤ基因型频率在单支、双支和多支病变组分别为０２５０、０２２２和０４００，多支血管病变较单支病变有增高的趋势，但差异无显著性（Ｐ＞００５）；（４）冠心病心功能Ⅰ～Ⅱ级患者、Ⅲ～Ⅳ级患者ＡＣＥＤＤ基因型频率分别为０２０７和０３５７，心功能Ⅲ～Ⅳ级患者的ＤＤ型频率显著高于心功能Ⅰ～Ⅱ级患者（Ｐ＜００５）。结论ＡＣＥ基因缺失多态性可能与中国人冠心病的发生与发展有关；ＤＤ基因型可能是冠心病预后不良的一个标记。

Objective To investigate the association of angiotensin converting enzyme (ACE) gene polymorphism with coronary heart disease (CHD) in Chinese Han nationality. Methods 148 patients with CHD and 159 unrelated healthy individuals were studied by using polymorase chain reaction (PCR) and genetic methods. The presence or absence of a 287 bp fragment in intron 16 of the gene serves as a marker for this polymorphism. Results (1) Among the normal subjects, the frequencies of the DD, ID and II genotypes was 0.157, 0.535 and 0.308, respectively. (2) The ACE genotypes distribution in CHD patients, as well as myocardial infarction (MI) and angina pectoris (AP) subgroups were significantly different from that of the normal subjects ( P <0.05). The DD genotype frequencies in CHD, MI and AP groups were 0.264, 0.278 and 0.250, respectively. (3) The DD genotype frequency in multivessel disease patients were higher than that in single and double vessel disease patients (0.400 vs 0.250 and 0.222, P >0.05). (4) Patients with worse heart function (NYHA Class Ⅲ to Ⅳ) had significantly higher DD frequency than those with better heart function (NYHA Ⅰ to Ⅱ) (0.357 vs 0.207, P <0.05). Conclusion These results suggest that the ACE gene deletion polymorphism is involved in the occurrence and the development of CHD in the population of Chinese, and DD genotype might be a genetic marker of worse outcome in CHD patients.