α-adducin基因G460W多态性与脑出血独立相关(英文)  

Alpha-adducin gene G/W460 polymorphism is associated with intracerebral hemor rhage independently

作　　者：窦相峰 张红叶 黄晓红 孙凯 鞠振宇 刘晓宁 汪道文[2] 廖玉华[3] 马爱群[4] 祝之明[5] 赵炳让[6] 赵继宗[7] 宋燕 张陆 惠汝太 

机构地区：[1]中国医学科学院阜外医院中德实验室,北京市100037 [2]武汉同济医院内科,湖北省武汉市430030 [3]武汉协和医院内科,湖北省武汉市430022 [4]西安医科大学第一附属医院内科,陕西省西安市710061 [5]解放军第三军医大学大坪医院内科,重庆市400042 [6]天津心血管病研究所,天津市300051 [7]北京天坛医院内科,北京市100025

出　　处：《中国临床康复》2004年第16期3170-3171,共2页Chinese Journal of Clinical Rehabilitation

基　　金：国家重点基础研究发展规划基因资助项目(G2000056901)~~

摘　　要：背景:原发性高血压是脑出血最主要的危险因素,两者之间的密切关系提示可能拥有共同的遗传易感基因。与血压水平或高血压相关的基因可能通过血压或其他途径在脑出血的病理生理过程中发挥重要作用。目的:探讨α-adducin基因G460W多态性与脑出血的相关性。设计:病例对照研究。地点和对象:454例初发脑出血患者,脑出血均由CT和MRI诊断,按年龄、性别匹配454例对照。脑出血病例与对照组均进行基因分型,并通过心脑血管病标准问卷调查、血生化指标测定收集脑出血传统危险因素的信息。主要观察指标:α-adducin基因G460W多态性由PCR判定。结果:脑出血病例组α-adducin基因G460W频率高于对照组(82.2%比76.0%,P=0.02)。多元Logistic回归调整了高血压后,α-adducin基因G460W等位基因携带者与非G460W携带者相比OR为1.41(95%CI,1.04～1.91);调整高血压、过量饮酒和低血清胆固醇等多项脑出血传统危险后,α-adducin基因G460W多态性和脑出血的关联关系依然存在(OR,1.38;95%CI,1.01～1.88)。结论:α-adducin基因G460W多态与脑出血存在关联关系,G460W等位基因与脑出血患病危险的增高有关。这种关联关系独立于高血压和脑出血传统的危险因素。BACKGROUND:Essential hypertension has been traditionally regarded as the most powerful risk factor for intracerebral hemorrhage(ICH).The established relations hip between hypertension and ICH indicates that they may share at least some gen es in common.Genes contributing to interindividual variation in blood pressure l evels and essential hypertension status may play a role in the etiology of ICH e ither through their effects on blood pressure levels or through separate pathway s. OBJECTIVE:To explore the correlation between α-adducin ADD1 G/W460 polymorp hism and ICH. DESIGN:Case-control study. SETTING and PARTICIPANTS:Four hundred and fifty four first-ever ICH patients who were determined by cerebral CT or MRI were recruited and 454 age-and gender -matched subjects as controls.Genotyping ICH patients and controls were all gen otyped and the information of ICH conventional risk factor through standard ques tionnaire of cardiac and cerebrovascular diseases and hematologically biochemica l markers was determined and collected. MAIN OUTCOME MEASURES:The polymorphism of(α-adducin gene G/W460 was measured by PCR. RESULTS:A higher prevalence of G/W460 allele among ICH patients was observed(8 2.2%versus 76.0%among control subjects,P=0.02).The interval α-adducin G/W460 allele was significantly associated with ICH in Chinese after adjustment for hy pertension[(odds ratio(OR),1.41;95%conftidence interval(CI),1.04 to 1.91] and a fter further adjustment for hypertension and other ICH putative risk factors (OR ,1.38;95%CI,1.01 to 1.88). CONCLUSION:ADD1 G/W460 polymorphism is significantly associated with ICH in Ch inese.This association does not appear to be mediated by established ICH risk fa ctors,specifically hypertension status.

关 键 词：脑出血/遗传学 高血压/遗传学 基因 危险因素 病例对照研究 

分 类 号：R743[医药卫生—神经病学与精神病学]