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。
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《自然—遗传学》发表论文摘要（英文）
Nature Genetics
Volume:42, Pages: 614–618 Year published: (2010)
doi:10.1038/ng.603
Received 09 November 2009 Accepted 03 May 2010 Published online 06 June 2010
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,
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 × 1048, OR = 1.90; rs9468925, Pcombined = 2.21 × 1033, 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 × 1017, OR = 1.20), which contains three genes: RNASET2, FGFR1OP and CCR6. Our study provides new insights into the genetic basis of vitiligo.
