title: Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease.
abstract: Behçet's disease is a genetically complex disease of unknown etiology characterized by recurrent inflammatory attacks affecting the orogenital mucosa, eyes and skin. We performed a genome-wide association study with 311,459 SNPs in 1,215 individuals with Behçet's disease (cases) and 1,278 healthy controls from Turkey. We confirmed the known association of Behçet's disease with HLA-B*51 and identified a second, independent association within the MHC Class I region. We also identified an association at IL10 (rs1518111, P = 1.88 x 10(-8)). Using a meta-analysis with an additional five cohorts from Turkey, the Middle East, Europe and Asia, comprising a total of 2,430 cases and 2,660 controls, we identified associations at IL10 (rs1518111, P = 3.54 x 10(-18), odds ratio = 1.45, 95% CI 1.34-1.58) and the IL23R-IL12RB2 locus (rs924080, P = 6.69 x 10(-9), OR = 1.28, 95% CI 1.18-1.39). The disease-associated IL10 variant (the rs1518111 A allele) was associated with diminished mRNA expression and low protein production.
authors.affiliation: National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, USA. remmerse@mail.nih.gov
authors.forename: Elaine F
authors.initials: EF
authors.lastname: Remmers
authors.forename: Fulya
authors.initials: F
authors.lastname: Cosan
authors.forename: Yohei
authors.initials: Y
authors.lastname: Kirino
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Ombrello
authors.forename: Neslihan
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authors.lastname: Abaci
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authors.lastname: Satorius
authors.forename: Julie M
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authors.forename: Barbara
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authors.initials: BD
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authors.forename: Aris
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authors.lastname: Cakiris
authors.forename: Oznur
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authors.lastname: Aglar
authors.forename: Zeliha
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authors.lastname: Emrence
authors.forename: Hulya
authors.initials: H
authors.lastname: Azakli
authors.forename: Duran
authors.initials: D
authors.lastname: Ustek
authors.forename: Ilknur
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authors.lastname: Tugal-Tutkun
authors.forename: Gulsen
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authors.lastname: Akman-Demir
authors.forename: Wei
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authors.lastname: Chen
authors.forename: Christopher I
authors.initials: CI
authors.lastname: Amos
authors.forename: Michael B
authors.initials: MB
authors.lastname: Dizon
authors.forename: Afet Akdag
authors.initials: AA
authors.lastname: Kose
authors.forename: Gulsevim
authors.initials: G
authors.lastname: Azizlerli
authors.forename: Burak
authors.initials: B
authors.lastname: Erer
authors.forename: Oliver J
authors.initials: OJ
authors.lastname: Brand
authors.forename: Virginia G
authors.initials: VG
authors.lastname: Kaklamani
authors.forename: Phaedon
authors.initials: P
authors.lastname: Kaklamanis
authors.forename: Eldad
authors.initials: E
authors.lastname: Ben-Chetrit
authors.forename: Miles
authors.initials: M
authors.lastname: Stanford
authors.forename: Farida
authors.initials: F
authors.lastname: Fortune
authors.forename: Marwen
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authors.lastname: Ghabra
authors.forename: William E R
authors.initials: WE
authors.lastname: Ollier
authors.forename: Young-Hun
authors.initials: YH
authors.lastname: Cho
authors.forename: Dongsik
authors.initials: D
authors.lastname: Bang
authors.forename: John
authors.initials: J
authors.lastname: O'Shea
authors.forename: Graham R
authors.initials: GR
authors.lastname: Wallace
authors.forename: Massimo
authors.initials: M
authors.lastname: Gadina
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Kastner
authors.forename: Ahmet
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authors.lastname: Gül
mesh_terms: D000483:Alleles; D001208:Asia; D001528:Behcet Syndrome / Q000235:genetics* / Q000276:immunology; D016022:Case-Control Studies; D005060:Europe; D005805:Genes, MHC Class I / Q000235:genetics*; D055106:Genome-Wide Association Study; D015235:HLA-B Antigens / Q000235:genetics / Q000276:immunology; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics* / Q000276:immunology; D008877:Middle East; D020641:Polymorphism, Single Nucleotide; D014421:Turkey
chemical_list: D015235:HLA-B Antigens; D016753:Interleukin-10