Genome-wide Association Analyses Identify 13 New Susceptibility Loci for Generalized Vitiligo

Overview

Journal Nat Genet

Specialty Genetics

Date 2012 May 8

PMID 22561518

Citations 153

Authors

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 Gawkrodger

Anthony P Weetman

Alain Taieb

Thomas Jouary

Khaled Ezzedine

Margaret R Wallace

Wayne T McCormack

Mauro Picardo

Giovanni Leone

Andreas Overbeck

Nanette B Silverberg

Richard A Spritz

Affiliations

Soon will be listed here.

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.

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