title: Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
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.
authors.affiliation: Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.
authors.forename: Ying
authors.initials: Y
authors.lastname: Jin
authors.forename: Stanca A
authors.initials: SA
authors.lastname: Birlea
authors.forename: Pamela R
authors.initials: PR
authors.lastname: Fain
authors.forename: Tracey M
authors.initials: TM
authors.lastname: Ferrara
authors.forename: Songtao
authors.initials: S
authors.lastname: Ben
authors.forename: Sheri L
authors.initials: SL
authors.lastname: Riccardi
authors.forename: Joanne B
authors.initials: JB
authors.lastname: Cole
authors.forename: Katherine
authors.initials: K
authors.lastname: Gowan
authors.forename: Paulene J
authors.initials: PJ
authors.lastname: Holland
authors.forename: Dorothy C
authors.initials: DC
authors.lastname: Bennett
authors.forename: Rosalie M
authors.initials: RM
authors.lastname: Luiten
authors.forename: Albert
authors.initials: A
authors.lastname: Wolkerstorfer
authors.forename: J P Wietze
authors.initials: JP
authors.lastname: van der Veen
authors.forename: Anke
authors.initials: A
authors.lastname: Hartmann
authors.forename: Saskia
authors.initials: S
authors.lastname: Eichner
authors.forename: Gerold
authors.initials: G
authors.lastname: Schuler
authors.forename: Nanja
authors.initials: N
authors.lastname: van Geel
authors.forename: Jo
authors.initials: J
authors.lastname: Lambert
authors.forename: E Helen
authors.initials: EH
authors.lastname: Kemp
authors.forename: David J
authors.initials: DJ
authors.lastname: Gawkrodger
authors.forename: Anthony P
authors.initials: AP
authors.lastname: Weetman
authors.forename: Alain
authors.initials: A
authors.lastname: Taïeb
authors.forename: Thomas
authors.initials: T
authors.lastname: Jouary
authors.forename: Khaled
authors.initials: K
authors.lastname: Ezzedine
authors.forename: Margaret R
authors.initials: MR
authors.lastname: Wallace
authors.forename: Wayne T
authors.initials: WT
authors.lastname: McCormack
authors.forename: Mauro
authors.initials: M
authors.lastname: Picardo
authors.forename: Giovanni
authors.initials: G
authors.lastname: Leone
authors.forename: Andreas
authors.initials: A
authors.lastname: Overbeck
authors.forename: Nanette B
authors.initials: NB
authors.lastname: Silverberg
authors.forename: Richard A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D002884:Chromosomes, Human, Pair 15; D005127:Eye Color; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D014820:Vitiligo / Q000235:genetics*