AT_1R基因A1166C多态性与汉、藏和彝族原发性高血压的遗传易感性  

A1166C polymorphism of the angiotensin Ⅱ type 1 receptor gene and essential hypertension in Han, Tibetan and Yi populations

作　　者：刘英[1] 单广良[1] 崔超英 侯淑琴[3] 卓玛次仁[4] 芩维浚[4] 才旦 郑华清[3] 萧占森[3] 乌正赉[1] 周文郁[1] 邱长春[1] 

机构地区：[1]中国医学科学院基础医学研究所中国协和医科大学基础医学院医学分子生物学国家重点实验室西藏医学院生理学教研室,北京100005 [2]西藏医学院生理学教研室 [3]北京市房山区第一医院检验科 [4]西藏自治区人民医院心血管内科

出　　处：《中华医学遗传学杂志》2003年第3期220-224,共5页Chinese Journal of Medical Genetics

基　　金：美国中华医学基金 (96- 657);国家自然科学基金 (39760 0 6739870 687)~~

摘　　要：目的　研究血管紧张素 1型受体 ( angiotensin type 1receptor,AT1 R)基因 A116 6 C多态性是否与汉族、藏族和彝族原发性高血压 ( essential hypertension,EH)的遗传易感性相关联。方法　以74 8名受试者的基因组 DNA为模板 ,应用聚合酶链反应 -限制性片段长度多态性方法检测 A116 6 C多态性。结果　在汉、藏、彝 3个民族正常人群中 ,A116 6等位基因的频率分别为 0 .979、0 .939和 0 .96 5 ;在藏族男性中 ,EH患者 A116 6等位基因的频率明显高于正常对照 ( P=0 .0 0 1) ,AA基因型 ( P=0 .0 0 34)是 EH的独立危险因素 ;在汉族和彝族人群中 ,EH患者和正常对照之间 A116 6 C基因型分布和等位基因频率的差异均无显著性。结论　在汉族、藏族和彝族人群中 ,AT1 R基因 A116 6是最常见的等位基因 ;A116 6 C多态性是藏族男性 EH的遗传易感因子 ,而不是汉族和彝族Objective To clarify whether A1166C polymorphism of the angiotensin Ⅱ type 1 receptor (AT 1R) gene is associated with susceptibility to essential hypertension in Han, Tibetan and Yi populations in China. Methods This study involved 302 normotensive and 446 hypertensive subjects. The polymorphism was detected by polymerase chain reaction restriction fregment length polymorphism in genomic DNA. The data were analyzed by ANCOVA, χ 2 test, and multiple logistic regression. Results In normotensive controls, the A1166 allele frequencies were 0.979, 0.939 and 0.965 in Han, Tibetan and Yi participants, respectively. There was no significant intergroup variation in frequency of the allele in normotensives (χ 2=4.166, P =0.125). The frequency of the A1166 allele in Tibetan male hypertensives was significantly higher than that in normotensives (χ 2=11.46, P =0.001). There was no significant difference in A1166C genotype distribution and allele frequency between normotensives and hypertensives either in the Han ( P =0.465) or Yi ( P =0.357) populations. Body mass index in the Han and Yi populations ( P =0.0001), age in the Tibetan and Yi populations ( P =0.0001), and AA genotype in the Tibetan male population ( P =0.0034) all were independent risk factors for hypertension. Diastolic blood pressure levels were significantly higher in Tibetan male subjects with the AA genotype than in those with the AC+CC genotype ( P =0.0040). Conclusion The A1166 allele is very common in Han, Tibetan and Yi populations, approximately 1.35 fold more common than in Caucasians. The A1166 allele of the AT 1R gene may be a predisposing factor for essential hypertension in Tibetan males. A1166C polymorphism of the AT 1R gene is probably not involved in the pathogenesis of essential hypertension in Han and Yi populations.

关 键 词：ATlR基因 A1166C多态性 汉族 藏族 彝族 原发性高血压 遗传易感性 

分 类 号：R544.1[医药卫生—心血管疾病]