IR@PKUHSC  > 北京大学第二临床医学院  > 皮科
学科主题临床医学
Association Analyses Identify Three Susceptibility Loci for Vitiligo in the Chinese Han Population
Tang, Xian-Fa1,2,3; Zhang, Zheng1,2,3; Hu, Da-Yan1,2,3; Xu, Ai-E4; Zhou, Hai-Sheng; Sun, Liang-Dan1,2,3; Gao, Min1,2,3; Gao, Tian-Wen5; Gao, Xing-Hua6; Chen, Hong-Duo6; Xie, Hong-Fu7; Tu, Cai-Xia8; Hao, Fei9; Wu, Ri-Na10; Zhang, Fu-Ren11; Liang, Ling12; Pu, Xiong-Ming13; Zhang, Jian-Zhong14; Han, Jian-Wen10; Pan, Gong-Pu; Wu, Jia-Qiang15; Li, Kai5; Su, Ming-Wan16; Du, Wei-Dong; Zhang, Wei-Jia17; Liu, Jian-Jun; Xiang, Lei-Hong15; Yang, Sen1,2,3; Zhou, You-Wen16; Zhang, Xue-Jun1,2,3,15
刊名JOURNAL OF INVESTIGATIVE DERMATOLOGY
2013-02-01
DOI10.1038/jid.2012.320
133期:2页:403-410
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Dermatology
研究领域[WOS]Dermatology
关键词[WOS]GENOME-WIDE ASSOCIATION ; GENERALIZED VITILIGO ; AUTOIMMUNE-DISEASES ; COMMON VARIANTS ; T-CELLS ; LINKAGE ; EPIDEMIOLOGY ; FAMILIES ; GENETICS ; GENES
英文摘要

To identify susceptibility loci for vitiligo, we extended our previous vitiligo genome-wide association study with a two-staged replication study that included 6,857 cases and 12,025 controls from the Chinese Han population. We identified three susceptibility loci, 12q13.2 (rs10876864, P-combined = 8.07 X 10(-12), odds ratio (OR) = 1.18), 11q23.3 (rs638893, P-combined = 2.47 x 10(-9), OR = 1.22), and 10q22.1 (rs1417210, P-combined = 1.83 x 10(-8), OR = 0.88), and confirmed three previously reported loci for vitiligo, 3q28 (rs9851967, P-combined = 8.57 x 10(-8), OR = 0.88), 10p15.1 (rs3134883, P-combined = 1.01 x 10(-5), OR = 1.11), and 22q12.3 (rs2051582, P-combined = 2.12 x 10(-5), OR = 1.14), in the Chinese Han population. The most significant single-nucleotide polymorphism in the 12q13.2 locus is located immediately upstream of the promoter region of PMEL, which encodes a major melanocyte antigen and has expression loss in the vitiligo lesional skin. In addition, both 12q13.2 and 11q23.3 loci identified in this study are also associated with other autoimmune diseases such as type 1 diabetes and systemic lupus erythematosus. These findings provide indirect support that vitiligo pathogenesis involves a complex interplay between immune regulatory factors and melanocyte-specific factors. They also highlight similarities and differences in the genetic basis of vitiligo in Chinese and Caucasian populations. Journal of Investigative Dermatology (2013) 133, 403-410; doi:10.1038/jid.2012.320; published online 6 September 2012

语种英语
WOS记录号WOS:000313668000019
项目编号81130031 ; 2011CB512103 ; 2012CB722404 ; IRT-1046 ; 81072460 ; 81000691 ; 81172591
资助机构State Key Program of National Natural Science of China ; National Basic Research Program of China (973 Plan) ; MOE ; National Natural Science Foundation of China ; Canadian Dermatology Foundation
引用统计
被引频次:24[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/61049
专题北京大学第二临床医学院_皮科
作者单位1.Mt Sinai Sch Med, Dept Med, New York, NY USA
2.Anhui Med Univ, Dept Dermatol & Venereol, Hefei 230032, Anhui, Peoples R China
3.Anhui Med Univ, Hosp 1, Inst Dermatol, Hefei 230032, Anhui, Peoples R China
4.Anhui Med Univ, Hosp 1, Dept Dermatol, Hefei 230032, Anhui, Peoples R China
5.Third Peoples Hosp Hangzhou, Dept Dermatol, Hangzhou, Zhejiang, Peoples R China
6.Fourth Mil Med Univ, Xijing Hosp, Dept Dermatol, Xian 710032, Peoples R China
7.China Med Univ, Hosp 1, Dept Dermatol, Shenyang, Peoples R China
8.Cent S Univ, Xiangya Hosp, Dept Dermatol, Changsha, Hunan, Peoples R China
9.Dalian Med Univ, Affiliated Hosp 2, Dept Dermatol, Dalian, Peoples R China
10.Third Mil Med Univ, Southwest Hosp, Dept Dermatol, Chongqing, Peoples R China
11.Inner Mongolia Med Coll, Affiliated Hosp, Dept Dermatol, Hohhot, Peoples R China
12.Shandong Prov Inst Dermatol & Venereol, Dept Dermatol, Jinan, Peoples R China
13.Guangxi Med Univ, Affiliated Hosp 1, Dept Dermatol, Nanning, Peoples R China
14.Peoples Hosp Xinjiang Uygur Autonomous Reg, Dept Dermatol, Urumqi, Peoples R China
15.Peking Univ, Peoples Hosp, Dept Dermatol, Beijing 100871, Peoples R China
16.Fudan Univ, Huashan Hosp, Dept Dermatol, Shanghai 200433, Peoples R China
17.Univ British Columbia, Dept Dermatol & Skin Sci, Vancouver, BC V5Z 4E8, Canada
推荐引用方式
GB/T 7714
Tang, Xian-Fa,Zhang, Zheng,Hu, Da-Yan,et al. Association Analyses Identify Three Susceptibility Loci for Vitiligo in the Chinese Han Population[J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY,2013,133(2):403-410.
APA Tang, Xian-Fa.,Zhang, Zheng.,Hu, Da-Yan.,Xu, Ai-E.,Zhou, Hai-Sheng.,...&Zhang, Xue-Jun.(2013).Association Analyses Identify Three Susceptibility Loci for Vitiligo in the Chinese Han Population.JOURNAL OF INVESTIGATIVE DERMATOLOGY,133(2),403-410.
MLA Tang, Xian-Fa,et al."Association Analyses Identify Three Susceptibility Loci for Vitiligo in the Chinese Han Population".JOURNAL OF INVESTIGATIVE DERMATOLOGY 133.2(2013):403-410.
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