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Nature Gentics:GWAS发现白癜风易感基因

来源:新华网 2010-06-07 16:27

由安徽医科大学张学军教授领衔的研究团队历时5年,运用全基因组关联分析研究(GWAS)成功发现了白癜风易感基因,首次在国际上明确白癜风是自身免疫性疾病,为最终征服白癜风这种复杂疾病奠定了第一步基础。

据介绍,白癜风是一种常见的色素脱失性皮肤病,皮肤黑素细胞被破坏,但是原因不明。目前,我国患者人数已经超过1000万。由于该病发无定处,但好发于颜面等暴露部位,所及之处皮肤色素完全脱失而成瓷白色,严重影响形象美观,甚至毁损患者容貌,给患者带来巨大精神痛苦。与此同时,白癜风还经常合并炎症性肠病、银屑病、类风湿性关节炎、甲状腺病、糖尿病、恶性贫血以及系统性红斑狼疮等多种自身免疫性疾病,严重危害患者身心健康和生活质量。

张学军教授领衔的安徽医科大学第二、第一附属医院皮肤病遗传学研究团队与复旦大学华山医院等国内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的全基因组关联分析技术平台和独特的生物信息分析技术,在国家863计划、973计划、国家自然科学基金重点项目等资助下,历时5年,对近2万例中国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4个易感基因,这些易感基因的异常表现将导致白癜风的发生。(生物谷Bioon.com)

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生物谷推荐原文出处:

Nature Genetics  doi:10.1038/ng.603

Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC
Cheng Quan,Yun-Qing Ren,Lei-Hong Xiang,Liang-Dan Sun,Ai-E Xu,Xing-Hua Gao,Hong-Duo Chen,Xiong-Ming Pu,Ri-Na Wu,Chao-Zhao Liang,Jia-Bin Li,Tian-Wen Gao,Jian-Zhong Zhang,Xiu-Li Wang,Jun Wang,Rong-Ya Yang,Ling Liang,Jian-Bin Yu,Xian-Bo Zuo,Sheng-Quan Zhang,Shu-Mei Zhang,Gang Chen,Xiao-Dong Zheng,Pan Li,Jun Zhu,Yong-Wei Li,Xiao-Dong Wei,Wei-Song Hong,Ying Ye,Yong Zhang,Wei-Su Wu,Hui Cheng,Pu-Ling Dong,Da-Yan Hu,Yang Li,Min Li,Xin Zhang,Hua-Yang Tang,Xian-Fa Tang,Sheng-Xin Xu,Su-Min He,Yong-Mei Lv,Min Shen,Hong-Quan Jiang,Ying Wang,Kai Li,Xiao-Jing Kang,Yu-Qin Liu,Li Sun,Zhi-Fang Liu,Shao-Qiong Xie,Cheng-Yao Zhu,Qiang Xu,Jin-Ping Gao,Wen-Long Hu,Cheng Ni,Ting-Meng Pan,Yun Li,Sha Yao,Cai-Feng He,Yang-Sheng Liu,Ze-Ying Yu,Xian-Yong Yin,Feng-Yu Zhang,Sen Yang,Youwen Zhou& Xue-Jun Zhang

We conducted a genome-wide association study of generalized vitiligo in the Chinese Han population by genotyping 1,117 cases and 1,429 controls. The 34 most promising SNPs were carried forward for replication in samples from individuals of the Chinese Han (5,910 cases and 9,916 controls) and Chinese Uygur (713 cases and 824 controls) populations. We identified two independent association signals within the major histocompatibility complex (MHC) region (rs11966200, Pcombined = 1.48 × 10?48, OR = 1.90; rs9468925, Pcombined = 2.21 × 10?33, OR = 0.74). Further analyses suggested that the strong association at rs11966200 might reflect the reported association of the HLA-A*3001, HLA-B*1302, HLA-C*0602 and HLA-DRB1*0701 alleles and that the association at rs9468925 might represent a previously unknown HLA susceptibility allele. We also identified one previously undescribed risk locus at 6q27 (rs2236313, Pcombined = 9.72 × 10?17, OR = 1.20), which contains three genes: RNASET2, FGFR1OP and CCR6. Our study provides new insights into the genetic basis of vitiligo.

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