血管紧张素转换酶基因多态性与脑出血的关系  

Relationship between angiotensin converting enzyme gene insertion/deletion polymorphism and intracerebral hemorrhage in Chinese

作　　者：尚蔚[1] 窦相峰[2] 张红叶[2] 黄晓红[2] 刘晓宁[2] 鞠振宇[2] 孙凯[2] 宋燕[2] 张陆[2] 吴晓东[1] 惠汝太 

机构地区：[1]中国科学院研究生院生物系,北京100039 [2]中国医学科学院中国协和医科大学阜外心血管病医院心血管病研究所,北京100037

出　　处：《中风与神经疾病杂志》2004年第5期388-390,共3页Journal of Apoplexy and Nervous Diseases

基　　金：国家 973重点基础研究发展规划基金资助项目( G2 0 0 0 0 5 690 1)

摘　　要：目的　高血压是脑出血最主要的危险因素 ,与血压水平或高血压相关的基因可能通过血压和其它途径在脑出血的发生、发展中起重要作用。本文通过大样本病例 -对照研究 ,拟探讨血管紧张素转换酶 (ACE)基因I/ D多态性与脑出血的相关性。方法　多中心病例对照研究 ,从 7个研究中心收集 4 75例脑出血病例 ,匹配 4 75例对照 ,病例和对照均接受心脑血管病标准问卷调查、血生化检查。PCR检测 ACE基因 I/ D多态性。结果　脑出血组和对照组 ACE基因 I/ D多态性基因型频数分布符合 Hardy- Weinberg平衡。两组 ACE基因 I/ D多态性基因型和等位基因频率分布差异无明显统计学意义 (基因型 :χ2 =0 .172 ,P=0 .918;等位基因 :χ2 =0 .0 8,P=0 .773)。多因素分析调整传统危险因素后 ,ACE基因 ORDI/ II=1.0 9(95 % CI 0 .6 8～ 1.78) ,ORDD/ II=1.10 (95 % CI 0 .6 9～ 1.77) ,表明 ACE基因 I/ D多态性和脑出血无关。结论　 ACE基因 I/ D多态性和脑出血不存在关联关系 ,ACE基因I/ D多态性可能不是中国人脑出血的遗传影响因素。Objective Hypertension is a major risk factor for intracerebral hemorrhage. The genes associated with the level of blood pressure and essencial hypertension would be involved in the development of this disorder. In the present study,we investigated the association of angiotensin converting enzyme gene insertion/deletion (ACE I/D) polymorphism in intron 16 with intracerebral hemorrhage in a large case-control study. Methods 475 patients with intracerebral hemorrhage and 475 age- and sex-matched controls were recruited at the same demographic area and the same time from 2000 to 2001 from seven collaborative research centers. All of them accepted to answer the standardized questionaire of cardio-cerebralvascular disease and the biochemical measurement. ACE I/D polymorphism was genotyped with polymerase chain reaction method. Results The observed genotype distribution was in agreement with the Hardy-Weinberg proportion. Distribution of ACE genotypes and alleles did not differ between intracerebral hemorrhage and matched control (genotype:χ~2=0.172,P=0.918;allele:χ~2=0.08,P=0.773). The results of multiple Logistic regression adjusted for putative risk factors such as hypertension,heavy drinking and low serum cholesterol level also showed no association (ORDI/II=1.09,95%CI 0.68～1.78;ORDD/II=1.10,95%CI 0.69～1.77). Conclusion No association of ACE I/D polymorphism with intracerebral hemorrhage is found in Chinese.

关 键 词：脑出血 I/D多态性 ACE基因 血管紧张素转换酶基因多态性 高血压 危险因素 病例 等位基因频率 PCR检测 人脑 

分 类 号：R743.34[医药卫生—神经病学与精神病学] R587.2[医药卫生—临床医学]