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Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo
Authors:Jin Ying  Birlea Stanca A  Fain Pamela R  Ferrara Tracey M  Ben Songtao  Riccardi Sheri L  Cole Joanne B  Gowan Katherine  Holland Paulene J  Bennett Dorothy C  Luiten Rosalie M  Wolkerstorfer Albert  van der Veen J P Wietze  Hartmann Anke  Eichner Saskia  Schuler Gerold  van Geel Nanja  Lambert Jo  Kemp E Helen  Gawkrodger David J  Weetman Anthony P  Taïeb Alain  Jouary Thomas  Ezzedine Khaled  Wallace Margaret R  McCormack Wayne T  Picardo Mauro  Leone Giovanni  Overbeck Andreas  Silverberg Nanette B  Spritz Richard A
Institution:Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.
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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