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全基因组关联研究现状
引用本文:Han JW,Zhang XJ. 全基因组关联研究现状[J]. 遗传, 2011, 33(1): 25-35. DOI: 10.3724/SP.J.1005.2011.00025
作者姓名:Han JW  Zhang XJ
作者单位:安徽医科大学皮肤病学研究所,合肥,230032
基金项目:国家“863”计划项目(编号: 2007AA02Z161)资助
摘    要:在过去的5年中, 全基因组关联研究(Genome-wide association study, GWAS)方法已被证明是研究复杂疾病和性状遗传易感变异的一种有效手段。目前, 各国科学家在多种复杂疾病和性状中开展了大量的GWAS, 对肿瘤、糖尿病、心脏病、神经精神疾病、自身免疫及免疫相关疾病等复杂疾病以及一些常见性状(如身高、体重、血脂、色素等)的遗传易感基因研究取得了重大成果。截止到2010年9月11日, 运用GWAS开展了对近200种复杂疾病/性状的研究, 发现了3 000多个疾病相关的遗传变异。文章就GWAS的发展及其在复杂疾病/性状中的应用做一综述。

关 键 词:全基因组关联研究  复杂疾病  性状  易感基因
收稿时间:2010-08-16
修稿时间:2010-10-29

Current status of genome-wide association study
Han Jian-Wen,Zhang Xue-Jun. Current status of genome-wide association study[J]. Hereditas, 2011, 33(1): 25-35. DOI: 10.3724/SP.J.1005.2011.00025
Authors:Han Jian-Wen  Zhang Xue-Jun
Affiliation:Institute of Dermatology of Anhui Medical University, Hefei 230032, China
Abstract:In past five years, genome-wide association study (GWAS) has proven to be a powerful and efficient study design in identifying genetic variants associated with complex diseases and traits. Many studies have been performed to explore the genetic basis of various complex diseases and traits. Genetic breakthroughs have been achieved in complex diseases and traits, such as oncology, diabetes, cardiology, psychiatric disorders, autoimmune and immune related diseases, height, weight, blood lipid, and pigmentation. Up to September 11th 2010, nearly 200 complex diseases and traits have been investigated by this approach, and more than 3000 diseases and/or traits related variants have been identified. In this review, we present an overview of GWAS in complex diseases and traits.
Keywords:genome-wide association  complex diseases  traits  susceptibility gene
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