期刊
NATURE GENETICS
卷 44, 期 6, 页码 676-U94出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2272
关键词
-
资金
- U.S. National Institutes of Health [R01AR045584, R01AR056292, P30AR057212]
We previously reported a genome-wide association study (GWAS) identifying 14 susceptibility loci for generalized vitiligo. We report here a second GWAS (450 individuals with vitiligo (cases) and 3,182 controls), an independent replication study (1,440 cases and 1,316 controls) and a meta-analysis (3,187 cases and 6,723 controls) identifying 13 additional vitiligo-associated loci. These include OCA2-HERC2 (combined P = 3.80 x 10(-8)), MC1R (P = 1.82 x 10(-13)), a region near TYR (P = 1.57 x 10(-13)), IFIH1 (P = 4.91 x 10(-15)), CD80 (P = 3.78 x 10(-10)), CLNK (P = 1.56 x 10(-8)), BACH2 (P = 2.53 x 10(-8)), SLA (P = 1.58 x 10(-8)), CASP7 (P = 3.56 x 10(-8)), CD44 (P = 1.78 x 10(-9)), IKZF4 (P = 2.75 x 10(-14)), SH2B3 (P = 3.54 x 10(-18)) and TOB2 (P = 6.81 x 10(-10)). Most vitiligo susceptibility loci encode immunoregulatory proteins or melanocyte components that likely mediate immune targeting and the relationships among vitiligo, melanoma, and eye, skin and hair coloration.
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