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Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease

 Elaine F. Remmers  ;  Fulya Cosan  ;  Yohei Kirino  ;  Michael J. Ombrello  ;  Neslihan Abaci  ;  Colleen Satorius  ;  Julie M. Le  ;  Barbara Yang  ;  Benjamin D. Korman  ;  Aris Cakiris  ;  Oznur Aglar  ;  Zeliha Emrence  ;  Hulya Azakli  ;  Duran Ustek  ;  lknur Tugal-Tutkun  ;  Gulsen Akman-Demir  ;  Wei Chen  ;  Christopher I. Amos  ;  Michael B. Dizon  ;  Afet Akdag Kose  ;  Gulsevim Azizlerli  ;  Burak Erer  ;  Oliver J. Brand  ;  Virginia G. Kaklamani  ;  Phaedon Kaklamanis  ;  Eldad Ben-Chetrit  ;  Miles Stanford  ;  Farida Fortune  ;  Marwen Ghabra  ;  William E. R. Ollier  ;  Young-Hun Cho  ;  Dongsik Bang  ;  John O'Shea  ;  Graham R.  ;  Wallace  ;  Massimo Gadina  ;  Daniel L. Kastner  ;  Ahmet Gül 
 Nature Genetics, Vol.42(8) : 698-702, 2010 
Journal Title
 Nature Genetics 
Issue Date
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.
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1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
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방동식(Bang, Dong Sik)
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