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

Y Jin, SA Birlea, PR Fain, TM Ferrara, S Ben… - Nature …, 2012 - nature.com
Y Jin, SA Birlea, PR Fain, TM Ferrara, S Ben, SL Riccardi, JB Cole, K Gowan, PJ Holland…
Nature genetics, 2012nature.com
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) …
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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