Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo

Ying Jin, Stanca A. Birlea, Pamela R. Fain, Tracey M. Ferrara, Songtao Ben, Sheri L. Riccardi, Joanne B. Cole, Katherine Gowan, Paulene J. Holland, Dorothy C. Bennett, Rosalie M. Luiten, Albert Wolkerstorfer, J. P Wietze Van Der Veen, Anke Hartmann, Saskia Eichner, Gerold Schuler, Nanja Van Geel, Jo Lambert, E. Helen Kemp, David J. GawkrodgerAnthony P. Weetman, Alain Taïeb, Thomas Jouary, Khaled Ezzedine, Margaret R. Wallace, Wayne T. McCormack, Mauro Picardo, Giovanni Leone, Andreas Overbeck, Nanette B. Silverberg, Richard A. Spritz

Research output: Contribution to journalArticlepeer-review

Abstract

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 × 10 -8), MC1R (P = 1.82 × 10 -13), a region near TYR (P = 1.57 × 10 -13), IFIH1 (P = 4.91 × 10 -15), CD80 (P = 3.78 × 10 -10), CLNK (P = 1.56 × 10 -8), BACH2 (P = 2.53 × 10 -8), SLA (P = 1.58 × 10 -8), CASP7 (P = 3.56 × 10 -8), CD44 (P = 1.78 × 10 -9), IKZF4 (P = 2.75 × 10 -14), SH2B3 (P = 3.54 × 10 -18) and TOB2 (P = 6.81 × 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.

Original languageEnglish
Pages (from-to)676-680
Number of pages5
JournalNature Genetics
Volume44
Issue number6
DOIs
Publication statusPublished - Jun 2012

ASJC Scopus subject areas

  • Genetics

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