Identification of multiple independent susceptibility loci in the HLA region in Behçet's disease

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dc.contributor.authorHughes T.
dc.contributor.authorCoit P.
dc.contributor.authorAdler A.
dc.contributor.authorYilmaz V.
dc.contributor.authorAksu K.
dc.contributor.authorDüzgün N.
dc.contributor.authorKeser G.
dc.contributor.authorCefle A.
dc.contributor.authorYazici A.
dc.contributor.authorErgen A.
dc.contributor.authorAlpsoy E.
dc.contributor.authorSalvarani C.
dc.contributor.authorCasali B.
dc.contributor.authorKötter I.
dc.contributor.authorGutierrez-Achury J.
dc.contributor.authorWijmenga C.
dc.contributor.authorDireskeneli H.
dc.contributor.authorSaruhan-Direskeneli G.
dc.contributor.authorSawalha A.H.
dc.date.accessioned2019-10-27T08:23:57Z
dc.date.available2019-10-27T08:23:57Z
dc.date.issued2013
dc.departmentEge Üniversitesien_US
dc.description.abstractBehçet's disease is an inflammatory disease characterized by recurrent oral and genital ulcers and significant organ involvement. Localizing the genetic association between HLA-B*51 and Behçet's disease and exploring additional susceptibility loci in the human leukocyte antigen (HLA) region are complicated by the strong linkage disequilibrium in this region. We genotyped 8,572 variants in the extended HLA locus and carried out imputation and meta-analysis of 24,834 variants in 2 independent Behçet's disease cohorts from 2 ancestry groups. Genotyped SNPs were used to infer classical HLA alleles in the HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DQB1 and HLA-DRB1 loci. Our data suggest that the robust HLA-B*51 association in Behçet's disease is explained by a variant located between the HLA-B and MICA genes (rs116799036: odds ratio (OR) = 3.88, P = 9.42 × 10 -50). Three additional independent genetic associations within PSORS1C1 (rs12525170: OR = 3.01, P = 3.01 × 10 -26), upstream of HLA-F-AS1 (rs114854070: OR = 1.95, P = 7.84 × 10 -14) and with HLA-Cw*1602 (OR = 5.38, P = 6.07 × 10 -18) were also identified and replicated. © 2013 Nature America, Inc. All rights reserved.en_US
dc.description.sponsorshipOklahoma Medical Research Foundation City, University of London, City BSIK03009 Rheumatology Research Foundation 918.66.620en_US
dc.description.sponsorship1Department of Internal Medicine, Division of Rheumatology, University of Michigan, Ann Arbor, Michigan, USA. 2Arthritis and Clinical Immunology, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA. 3Department of Physiology, Istanbul University, Istanbul School of Medicine, Istanbul, Turkey. 4Department of Rheumatology, Ege University, School of Medicine, Izmir, Turkey. 5Department of Rheumatology, Ankara University, Faculty of Medicine, Ankara, Turkey. 6Department of Rheumatology, Kocaeli University, School of Medicine, Kocaeli, Turkey. 7Ophthalmology Clinic, Okmeydanı Research and Education Hospital, Istanbul, Turkey. 8Department of Dermatology, Akdeniz University School of Medicine, Antalya, Turkey. 9Rheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy. 10Molecular Biology Laboratory, Azienda Ospedaliera Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy. 11Department of Internal Medicine II, University Hospital Tuebingen, Tuebingen, Germany. 12Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. -- Funding for this project was provided by the Rheumatology Research Foundation’s Rheumatology Investigator award to A.H.S. Genotyping of the Italian controls has been made possible by grants from the Celiac Disease Consortium (an innovative cluster approved by the Netherlands Genomics Initiative and partly funded by the Dutch government, grant BSIK03009 to C.W.) and the Netherlands Organization for Scientific Research (NWO-VICI grant 918.66.620 to C.W.). --en_US
dc.identifier.doi10.1038/ng.2551en_US
dc.identifier.endpage324en_US
dc.identifier.issn1061-4036
dc.identifier.issue3en_US
dc.identifier.pmid23396137en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage319en_US
dc.identifier.urihttps://doi.org/10.1038/ng.2551
dc.identifier.urihttps://hdl.handle.net/11454/26509
dc.identifier.volume45en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.relation.ispartofNature Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleIdentification of multiple independent susceptibility loci in the HLA region in Behçet's diseaseen_US
dc.typeArticleen_US

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