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类风湿关节炎易感基因的全基因组关联分析研究进展
郝峻烽△,魏玉保△,陈蕊雯*
0
(第二军医大学基础部医学遗传学教研室,上海 200433)
摘要:
类风湿关节炎(rheumatoid arthritis,RA)是一种炎性侵润关节及其周围结缔组织的系统性自身免疫疾病,也是一种具有复杂遗传模式的多基因遗传病。环境因素和遗传因素共同影响RA的发生、发展。它的易感基因研究给临床的诊断、治疗提供了理论基础。新兴的全基因组关联分析作为寻找易感基因的高通量技术,是发现多基因遗传性疾病包括RA易感基因的强大工具。它不仅能够验证已有的易感基因位点,还能够发现新的候选易感位点。近5年来,用全基因组关联分析研究易感基因取得了很多
关键词:  全基因组关联分析  类风湿关节炎  易感基因
DOI:10.3724/SP.J.1008.2009.01303
投稿时间:2009-06-05修订日期:2009-09-16
基金项目:国家自然科学基金(30471513);军队医学卫生基金(06G067).
Identifying susceptible genes of rheumatoid arthritis by genome-wide association study:an advance
HAO Jun-feng△,WEI Yu-bao△,CHEN Rui-wen*
(Department of Medical Genetics,College of Basic Medical Sciences,Second Military Medical University,Shanghai 200433,China)
Abstract:
Rheumatoid arthritis (RA),a systemic,inflammatory autoimmune disorder characterized by inflammation of the lining or synovium of the joints,is a complex polygenic disease with a complicated inheritance mode.Both genetic and environmental factors determine the development and progression of RA.Study on susceptible genes of RA provides a theoretic basis for clinical diagnosis and treatment.As a novel high-throughput screening method,genome-wide association study (GWAS) is a powerful approach for mapping susceptible genes of polygenic disease like RA.GWAS can not only verify the well-established susceptible loci,but also identify novel genetic loci candidates. Great improvement has been made in using GWAS to screen for novel genes,which casts new lights on the mechanism and treatment of RA.This review summarizes the progress in using GWAS for screening of RA susceptible genes.
Key words:  genome-wide association study  rheumatoid arthritis  susceptibility gene