血管紧张素Ⅱ1型受体基因单核苷酸多态性与原发性高血压和冠心病的相关研究  

Association of angiotensin Ⅱ receptor type 1 gene single nucleotide polymorphism with Chinese essential hypertension complicated with coronary heart disease

作　　者：张奎星[1] 刘同宝[1] 徐秋霞[1] 朱鼎良[2] 黄薇 

机构地区：[1]山东省立医院心内科,济南250021 [2]上海市高血压研究所 [3]国家人类基因组南方研究中心

出　　处：《中华心血管病杂志》2005年第8期720-723,共4页Chinese Journal of Cardiology

摘　　要：目的研究血管紧张素Ⅱ1型受体基因(AT1)单核苷酸多态性(SNP)与华东地区汉族人原发性高血压和冠心病的相关性。方法对AT1基因的启动子区、5′非翻译区、外显子及邻近内含子和3′非翻译区设计引物进行分段扩增,采用直接测序法在20个随机样本中检测AT1基因的SNP,选择所发现的SNP在213例单纯高血压、171例高血压合并冠心病和200例正常对照中进行基因分型,以期探讨AT1基因在原发性高血压和冠心病发病中的作用。结果共检出8个SNP,其中6个在启动子区,1个在编码区,1个在3′非翻译区,分别对SNP6(A-153G)、SNP7(T573C)和SNP8(A1166C)行基因分型,显示位于启动子-153G等位基因在原发性高血压合并冠心病组中的频率是17.8%,在对照组中是11.5%(P<0.05),而T573C和A1166C多态则未显示有统计学意义。结论血管紧张素Ⅱ1型受体基因启动子-153位A被G替代可能与华东汉族人原发性高血压患者合并冠心病相关。Objective To identify the genetic variants of angiotensin Ⅱ type 1 receptor （AT1） gene in a population of Han ethnicity in east China and to determine whether the AT1 gene polymorphisms are associated with essential hypertension （EH） and coronary heart disease （CHD）. Methods The detection of single nucleotide polymorphisms （SNPs） was performed in 20 subjects by a direct DNA sequencing. All 213 EH patients, 171 patients of EH with CHD and 200 controls were genotyped by three detected SNPs. Results Eight positive SNPs were detected in the promoter, exon and 3＇ untranslated region （3＇UTR） of AT1 gene. A case-control study by using a frequent SNP （A-153G） in the promoter region, showed a significant increase in allele frequency of G-153 in the subjects of EH complicated with CHD （17.8% vs 11.5% for normal controls, P 〈 0.05）. The SNP A1166C, which has been widely studied, manifested no difference in the three groups. Conclusion A polymorphism in the promoter region （ A153G） of AT1 gene might be involved in the development of EH and CHD in Han ethnicity population in east China.

关 键 词：血管紧张素 受体 多态性 单核苷酸 高血压 单核苷酸多态性(SNP) 血管紧张素Ⅱ1型受体基因 原发性高血压患者 合并冠心病 启动子区 

分 类 号：R544.1[医药卫生—心血管疾病] R541.4[医药卫生—内科学]