Association analyses identify three susceptibility loci for vitiligo in the chinese han population

Xian Fa Tang, Zheng Zhang, Da Yan Hu, Ai E. Xu, Hai Sheng Zhou, Liang Dan Sun, Min Gao, Tian Wen Gao, Xing Hua Gao, Hong Duo Chen, Hong Fu Xie, Cai Xia Tu, Fei Hao, Ri Na Wu, Fu Ren Zhang, Ling Liang, Xiong Ming Pu, Jian Zhong Zhang, Jian Wen Han, Gong Pu PanJia Qiang Wu, Kai Li, Ming Wan Su, Wei Dong Du, Wei Jia Zhang, Jian Jun Liu, Lei Hong Xiang, Sen Yang, You Wen Zhou, Xue Jun Zhang

Research output: Contribution to journalArticlepeer-review

59 Scopus citations


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, Pcombined =8.07 × 10-12, odds ratio (OR)=1.18), 11q23.3 (rs638893, P combined =2.47 × 10-9, OR=1.22), and 10q22.1 (rs1417210, Pcombined =1.83 × 10-8, OR=0.88), and confirmed three previously reported loci for vitiligo, 3q28 (rs9851967, P combined =8.57 × 10-8, OR=0.88), 10p15.1 (rs3134883, Pcombined =1.01 × 10-5, OR=1.11), and 22q12.3 (rs2051582, Pcombined =2.12 × 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.

Original languageEnglish
Pages (from-to)403-410
Number of pages8
JournalJournal of Investigative Dermatology
Issue number2
StatePublished - Feb 2013
Externally publishedYes


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