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学科主题: 临床医学
题名:
Association Analyses Identify Three Susceptibility Loci for Vitiligo in the Chinese Han Population
作者: 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
发表日期: 2013-02-01
DOI: 10.1038/jid.2012.320
卷: 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
所属项目编号: 81130031 ; 2011CB512103 ; 2012CB722404 ; IRT-1046 ; 81072460 ; 81000691 ; 81172591
项目资助者: 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
WOS记录号: WOS:000313668000019
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61049
Appears in Collections:北京大学第二临床医学院_皮科_期刊论文

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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

Recommended Citation:
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.
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