Abstract
王雪茵,胡永华.脑卒中病因流行病学的家系研究[J].Chinese journal of Epidemiology,2013,34(6):647-649
脑卒中病因流行病学的家系研究
Family-based studies on the etiological epidemiology of stroke
Received:January 03, 2013  
DOI:
KeyWord: 脑卒中  家系研究  遗传流行病学
English Key Word: Stroke  Family-based study  Genetic epidemiology
FundProject:国家自然科学基金
Author NameAffiliationE-mail
WANG Xue-yin  yhhu@bjmu.edu.cn 
HU Yong-hua   
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Abstract:
      脑卒中是一种由多个遗传和环境因素影响的病因异质性疾病[1],大量研究表明遗传因素在脑卒中的发生、发展、结局和预后等方面发挥着不容忽视的作用.家系研究通过发现与共享基因和(或)共享环境有关的危险因素来揭示脑卒中等复杂性疾病的潜在病因,是探索遗传和环境相对作用、确定疾病易感基因的最佳策略.近10余年来,不断涌现的各种组学技术、现代分子生物学检测、计算机信息化技术以及高效能统计分析方法为家系资料在遗传流行病学研究中的应用提供了可行性.本文对脑卒中尤其是缺血性脑卒中遗传易感性的家系研究进行综述.
English Abstract:
      Genome-wide association study is an important approach to identify common genetic variants that predispose to human disease.Because of the high cost of genotyping on hundreds of thousands of markers on thousands of subjects,a more cost-effective two-stage case-control design is applied by most genome-wide association studies.To describe the design and statistical methods of the two-stage case-control study,this paper introduces the principles of two-stage case-control design.its implementing steps in genome-wide associmion study and the features of its application. Thc method is illustrated with an example.
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