title: Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP.
abstract: We previously carried out a genome-wide association study of generalized vitiligo (GV) in non-Hispanic whites, identifying 13 confirmed susceptibility loci. In this study, we re-analyzed the genome-wide data set (comprising 1,392 cases and 2,629 controls) to specifically test association of all 33 GV candidate genes that have previously been suggested for GV, followed by meta-analysis incorporating both current and previously published data. We detected association of three of the candidate genes tested: TSLP (rs764916, P=3.0E-04, odds ratio (OR)=1.60; meta-P for rs3806933=3.1E-03), XBP1 (rs6005863, P=3.6E-04, OR=1.17; meta-P for rs2269577=9.5E-09), and FOXP3 (rs11798415, P=5.8E-04, OR=1.19). Association of GV with CTLA4 (rs12992492, P=5.9E-05, OR=1.20; meta-P for rs231775=1.0E-04) seems to be secondary to epidemiological association with other concomitant autoimmune diseases. Within the major histocompatibility complex (MHC), at 6p21.33, association with TAP1-PSMB8 (rs3819721, P=5.2E-06) seems to derive from linkage disequilibrium with major primary signals in the MHC class I and class II regions.
authors.affiliation: Human Medical Genetics Program, University of Colorado School of Medicine, Aurora, Colorado 80045, USA.
authors.forename: Stanca A
authors.initials: SA
authors.lastname: Birlea
authors.forename: Ying
authors.initials: Y
authors.lastname: Jin
authors.forename: Dorothy C
authors.initials: DC
authors.lastname: Bennett
authors.forename: Deborah M
authors.initials: DM
authors.lastname: Herbstman
authors.forename: Margaret R
authors.initials: MR
authors.lastname: Wallace
authors.forename: Wayne T
authors.initials: WT
authors.lastname: McCormack
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: Mauro
authors.initials: M
authors.lastname: Picardo
authors.forename: Giovanni
authors.initials: G
authors.lastname: Leone
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: Nanja
authors.initials: N
authors.lastname: van Geel
authors.forename: Jo
authors.initials: J
authors.lastname: Lambert
authors.forename: Andreas
authors.initials: A
authors.lastname: Overbeck
authors.forename: Pamela R
authors.initials: PR
authors.lastname: Fain
authors.forename: Richard A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D016022:Case-Control Studies; D016207:Cytokines / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D000071701:Regulatory Factor X Transcription Factors; D014157:Transcription Factors / Q000235:genetics*; D014820:Vitiligo / Q000235:genetics*; D000071717:X-Box Binding Protein 1; D000094632:Thymic Stromal Lymphopoietin
chemical_list: D016207:Cytokines; D004268:DNA-Binding Proteins; C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors; D000071701:Regulatory Factor X Transcription Factors; D014157:Transcription Factors; D000071717:X-Box Binding Protein 1; C000605543:XBP1 protein, human; D000094632:Thymic Stromal Lymphopoietin