血管紧张素Ⅱ1型受体基因rs388915多态性与原发性高血压的相关性  

Association of rs388915 polymorphism of AT1R gene withessential hypertension

作　　者：牛秋丽[1] 刘洁琳[1] 王佐广[1] 刘雅[1] 顾伟[1] 王皓[1] 文杰[1] 王丽娟[1] 李梅[1] 温绍君[1] 

机构地区：[1]首都医科大学附属北京安贞医院-北京市心肺血管疾病研究所高血压研究室,北京100029

出　　处：《心肺血管病杂志》2012年第3期232-235,共4页Journal of Cardiovascular and Pulmonary Diseases

基　　金：国家"863"高技术研究发展计划基金(2008AA02Z441)

摘　　要：目的:研究血管紧张素Ⅱ1型受体(angiotensinⅡtype 1 receptor,AT1R)基因rs388915多态性与汉族人群原发性高血压(EH)的相关性,为EH的诊断、治疗及易感性研究提供依据。方法:选取在北京安贞医院就诊的北方汉族原发性高血压患者640例(EH组)和442例体检血压正常者(正常对照组NT),应用荧光定量聚合酶链反应方法进行AT1R基因rs388915位点的多态性检测,比较不同分组人群的差异。结果:rs388915位点在EH组和NT组的基因型分别为GG型23/8、AG型211/125、AA型393/305;G等位基因频率分别为79.5%/83.9%,A等位基因频率分别为20.5%/16.1%。2组之间基因型和等位基因频率差异有统计学意义(分别为P=0.03;P=0.01)。显性模型、加性模型在2组间差异有统计学意义(P=0.019;P=0.03)。根据性别进行亚组分析,在女性人群中,EH组和NT组基因型分别为GG型7/3、AG型87/51、AA型132/127,2组之间基因型频率有差异(P=0.045);G等位基因频率28.7%/15.7%和A等位基因频率71.3%/84.3%,发现2组差异无统计学意义(P=0.000)。男性人群中,2组(EH/NT)患者基因型分别为GG型6/5、AG型124/74、AA型261/178,2组间差异无统计学意义(P=0.26);G等位基因频率19.5%/16.3%和A等位基因频率81.5%/83.7%,2组间差异无统计学意义(P=0.15)。经Logistic逐步回归分析,rs388915等位基因与EH发病密切相关(P=0.024,OR=1.341,95%Cl=1.039～1.1731)。结论:AT1R基因rs388915多态性可能与中国北方汉族人群原发性高血压的发病有关,特别是在女性人群中。Objective：To investigate the possible genetic associations between the rs388915 polvmorphisms of angiotensin Ⅱ type 1 receptor（AT1R） gene and essential hypertension in Northen Han Chinese.Give theory to support the diagnostic,the cure and the research of hypertension.Methods：Essential hypertensive patients（n=640） and healthy normotensive subjects（n=442） were screened for the polymorphism of rs388915 by real-time quantitative polymerase chain reaction after DNA extraction to identify representative variations in the AT1R gene.Results：Hypertension patients and normotensive subjects were significantly different with respect to the genotypes GG,AG and AA： 23,211 and 393 vs.8,125 and 305（P=0.03）.The allele frequency was also significantly different between the EH and NT groups（G,A=20.5%,79.5% vs.16.1%,83.9%）.Similarly,there were significantly differences in dominant model and additive model between the two groups,but not in ressecive model.Further analyzed by gender,the number of GG,AG,AA and the frequencies of G allele and A allele between EH and NT females were respectively 7,87,132 vs.3,51,127 and 28.7%,71.3% vs.15.7%,84.3%,which differed significantly（P=0.045,P=0.000）.As in male groups,there were no significant differences at all.The Logistic regression analysis,rs388915 allele is closely related with the pathogenesis of EH（P=0.024,OR=1.341,95% Cl=1.039-1.1731）.Conclusion：rs388915 of AT1R gene is maybe associated with essential hypertension in the Han Chinese population,and especially is closely related with female hypertension other than in males.

关 键 词：原发性高血压 血管紧张素Ⅱ1型受体 多态性 

分 类 号：R544.11[医药卫生—心血管疾病]