title: Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
abstract: 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 × 10(-12), odds ratio (OR)=1.18), 11q23.3 (rs638893, P(combined)=2.47 × 10(-9), OR=1.22), and 10q22.1 (rs1417210, P(combined)=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, P(combined)=1.01 × 10(-5), OR=1.11), and 22q12.3 (rs2051582, P(combined)=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.
authors.affiliation: Department of Dermatology and Venereology, Anhui Medical University, Hefei, China.
authors.forename: Xian-Fa
authors.initials: XF
authors.lastname: Tang
authors.forename: Zheng
authors.initials: Z
authors.lastname: Zhang
authors.forename: Da-Yan
authors.initials: DY
authors.lastname: Hu
authors.forename: Ai-E
authors.initials: AE
authors.lastname: Xu
authors.forename: Hai-Sheng
authors.initials: HS
authors.lastname: Zhou
authors.forename: Liang-Dan
authors.initials: LD
authors.lastname: Sun
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Tian-Wen
authors.initials: TW
authors.lastname: Gao
authors.forename: Xing-Hua
authors.initials: XH
authors.lastname: Gao
authors.forename: Hong-Duo
authors.initials: HD
authors.lastname: Chen
authors.forename: Hong-Fu
authors.initials: HF
authors.lastname: Xie
authors.forename: Cai-Xia
authors.initials: CX
authors.lastname: Tu
authors.forename: Fei
authors.initials: F
authors.lastname: Hao
authors.forename: Ri-Na
authors.initials: RN
authors.lastname: Wu
authors.forename: Fu-Ren
authors.initials: FR
authors.lastname: Zhang
authors.forename: Ling
authors.initials: L
authors.lastname: Liang
authors.forename: Xiong-Ming
authors.initials: XM
authors.lastname: Pu
authors.forename: Jian-Zhong
authors.initials: JZ
authors.lastname: Zhang
authors.forename: Jian-Wen
authors.initials: JW
authors.lastname: Han
authors.forename: Gong-Pu
authors.initials: GP
authors.lastname: Pan
authors.forename: Jia-Qiang
authors.initials: JQ
authors.lastname: Wu
authors.forename: Kai
authors.initials: K
authors.lastname: Li
authors.forename: Ming-Wan
authors.initials: MW
authors.lastname: Su
authors.forename: Wei-Dong
authors.initials: WD
authors.lastname: Du
authors.forename: Wei-Jia
authors.initials: WJ
authors.lastname: Zhang
authors.forename: Jian-Jun
authors.initials: JJ
authors.lastname: Liu
authors.forename: Lei-Hong
authors.initials: LH
authors.lastname: Xiang
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: You-Wen
authors.initials: YW
authors.lastname: Zhou
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data*; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D055106:Genome-Wide Association Study; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D014820:Vitiligo / Q000208:ethnology* / Q000235:genetics*; D055815:Young Adult; D058951:gp100 Melanoma Antigen / Q000235:genetics*
chemical_list: C548637:PMEL protein, human; D058951:gp100 Melanoma Antigen