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

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。

Association of rs388915 polymorphism of AT1R gene withessential hypertension

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.