PLoS Genet:XBP1 可能是白癜风易感基因

2013-11-11 MedSci MedSci原创

  由安徽医科大学教授张学军领衔的皮肤病遗传学研究团队通过全基因组关联分析研究,发现了白癜风易感基因,并首次在国际上明确白癜风是自身免疫性疾病。国际著名学术期刊《自然—遗传学》(Nature Genetics )日前在线发表了这项成果。该成果对于揭示白癜风发病机制具有重大意义,标志着我国白癜风易感基因研究跻身世界领先行列。  白癜风是一种常见色素脱失性皮肤病,好发于颜面等暴露部位,所及之处皮肤色素

  由安徽医科大学教授张学军领衔的皮肤病遗传学研究团队通过全基因组关联分析研究,发现了白癜风易感基因,并首次在国际上明确白癜风是自身免疫性疾病。国际著名学术期刊《自然—遗传学》(Nature Genetics )日前在线发表了这项成果。该成果对于揭示白癜风发病机制具有重大意义,标志着我国白癜风易感基因研究跻身世界领先行列。
  白癜风是一种常见色素脱失性皮肤病,好发于颜面等暴露部位,所及之处皮肤色素完全脱失而呈瓷白色,并经常合并多种自身免疫性疾病,给患者带来巨大精神痛苦。我国患者人数已超过1000万人。
  张学军告诉记者,人类要征服这类疾病,必须找到引起疾病的易感基因。安徽医科大学皮肤病遗传学研究团队历时5年,通过对近2万例中国汉族和维吾尔族白癜风患者和健康人对照进行基因分型,在人类基因组的3个区域内发现与白癜风发病密切相关的易感基因。
  该成果以强有力的证据指出,由遗传因素导致的自身免疫异常是白癜风发病的主要原因,为全面揭示白癜风的发病机制提供了新的契机,并为疾病预警、临床诊断及新药开发奠定了良好的理论基础;同时,该研究构建了第一个亚洲人群白癜风病例对照的全基因组关联分析数据库,为今后白癜风易感基因的深入研究打下了坚实基础。
  该研究项目由安徽医科大学第二附属医院、安徽医科大学第一附属医院等国内30多家单位共同协作,依托安徽医科大学皮肤病学教育部重点实验室和国家人类基因组南方研究中心完成。


原始出处:
Ren Y, Yang S, Xu S, Gao M, Huang W, Gao T, Fang Q, Quan C, Zhang C, Sun L, Liang Y, Han J, Wang Z, Zhang F, Zhou Y, Liu J, Zhang X.Genetic variation of promoter sequence modulates XBP1 expression and genetic risk for vitiligo. PLoS Genet. 2009 Jun;5(6):e1000523.

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    2014-06-23 canlab
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    2013-12-12 yeye5224612
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    2014-10-27 cy0324
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近日,安徽医科大学汪凯教授科研团队联合北京大学第三医院和德国鲁道夫大学医学中心等国内外多家单位,首次发现中国汉族人群肌萎缩侧索硬化疾病(ALS)的易感基因。研究成果于4月28日在国际著名学术期刊《自然—遗传学》在线发表。 肌萎缩侧索硬化是一种非常罕见的致死性神经系统变性疾病,迄今为止没有有效的治疗方法。近年来,欧美发达国家利用全基因组关联分析研究已经发现了本疾病的多个易感基因,但由于欧美人种与亚

Science:人类疾病全基因组关联分析(GWAS)获进展

日前,中科院北京基因组研究所重大疾病基因组与个体化医疗实验室“百人计划”方向东研究员项目组助理研究员渠鸿竹博士等参与开展的国际合作研究“人类疾病全基因组关联分析研究”获得重大进展。相关研究成果Systematic Localization of Common Disease-Associated Variation in Regulatory DNA于2012年9月在Science杂志发表。本研究