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AGTRL1基因变异与原发性高血压
引用本文:李薇薇,张怡,高平进,朱鼎良.AGTRL1基因变异与原发性高血压[J].中国分子心脏病学杂志,2008,8(5):301-304.
作者姓名:李薇薇  张怡  高平进  朱鼎良
作者单位:1. 200025,上海交通大学医学院上海市高血压研究所瑞金医院;杭州师范大学附属医院心内科,杭州市心血管病研究所
2. 上海交通大学医学院上海市高血压研究所瑞金医院,200025
基金项目:国家重点基础研究发展计划(973计划),国家高技术研究发展计划(863计划)
摘    要:目的探讨AGTRLl基因多态性及单倍型与原发性高血雎的相关关系。方法选取上海地区汉族人群原发性高血压家系248家共1042人为研究样本,应用TaqMan MGB荧光探针定量PCR技术,检测各样本.4GTRLl基因启动子区rs10501367和rs7119375基因多态性分型。应用FBAT软件预测陔两个多态性位点可能组成的单倍型.并对多态位点及单倍型与原发性高血压的关系进行分析。结果所选位点基因型频率在研究人群中的分布均符合Hardy—Weinberg遗传平衡定律:应用FBAT(显性模型遗传模式)统计分析结果显示rs10501367、rs7119375及其组成的单倍型G—G与原发性高血联相关。其中rs7119375的G等位基因(Z=2.390,P=0.017)和rs10501367的G等位基因(Z=2.177.P=0.030)可以由亲代下传给患病子代。结论位于AGTRLl基因启动子区的多态性位点与上海地区汉族人群原发性高血乐存在相关关系,单倍型G—G可能对高血压的发病有贡献.

关 键 词:AGTRLl  基因多态性  单倍型  原发性高血压  家系研究

Genetic variants in AGTRL1 gene and essential hypertension
LI Wei-wei,ZHANG Yi,GAO Ping-jin,ZHU Ding-liang.Genetic variants in AGTRL1 gene and essential hypertension[J].Molecular Cardiology of China,2008,8(5):301-304.
Authors:LI Wei-wei  ZHANG Yi  GAO Ping-jin  ZHU Ding-liang
Institution:LI Wei-wei, ZHANG Yi, G AO Ping-jin,ZHU Ding-liang( State Key Laboratory of Medical Genomics at Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai kzstitute of H)pertension and Shanghai Key Laboratory of Vascular Biology. Shanghai 200025, P. R. China 2. Hangzhou Normal University Affiliated Hospital, Department of Cardiovascular Disease, Hangzhou Institute of Cardiovascular Disease, Hangzhou 310015)
Abstract:Objective To assess the relationship between genetic polymorphisms and halotypes of AGTRL1 gene and essential hypertension.Methods We recruited 1042 Han Chinese from 248 families with essential hypertension.The genotyping was performed using the TaqMan assay.Using FBAT software to esti- mate haplotypes and analyze the genotyping data.Results For rs10501367 and rs7119375,no significant de- viation from Hardy-Weinberg equilibrium was found.Using dominant model of FBAT,we observed that rs10501367,rs7119375 and haplotype G-G were associated with hypertension,with allele"G"of rs10501367(Z=2.177,P=0.030)and allele"G"of rs7119375(Z=2.390,P=0.017)being over- transmitted to affected offspring.Conclusion The study suggests that the genetic polymorphisms located in the promoter of AGTRL1 are associated with essential hypertension and haplotye G-G may contribute to hyper- tension.
Keywords:AGTRL1  Genetic polymorphism  Haplotype  Essential hypertension  Family study
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