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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorCarmona, F. David
dc.contributor.authorCoit, Patrick
dc.contributor.authorSaruhan-Direskeneli, Güher
dc.contributor.authorHernández-Rodríguez, José
dc.contributor.authorCid, María C.
dc.contributor.authorSolans Laque, Roser
dc.date.accessioned2021-04-22T06:29:33Z
dc.date.available2021-04-22T06:29:33Z
dc.date.issued2017-03-09
dc.identifier.citationCarmona FD, Coit P, Saruhan-Direskeneli G, Hernández-Rodríguez J, Cid MC, Solans R, et al. Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy. Sci Rep. 2017 Mar 9;7:43953.
dc.identifier.issn2045-2322
dc.identifier.urihttps://hdl.handle.net/11351/5887
dc.descriptionGenome-wide association studies; Vasculitis syndromes
dc.description.abstractGiant cell arteritis (GCA) and Takayasu’s arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P = 7.54E-07; ORGCA = 1.19, ORTAK = 1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA = 5.52E-04, ORGCA = 1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus.
dc.language.isoeng
dc.publisherNature Publishing Group
dc.relation.ispartofseriesScientific Reports;7
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectVasculitis
dc.subjectArteritis de cèl·lules gegants
dc.subject.meshVasculitis
dc.subject.meshGiant Cell Arteritis
dc.titleAnalysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1038/srep43953
dc.subject.decsvasculitis
dc.subject.decsarteritis de células gigantes
dc.subject.decspredisposición
dc.relation.publishversionhttps://www.nature.com/articles/srep43953
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Carmona FD] Instituto de Parasitología y Biomedicina ‘López-Neyra’, IPBLN-CSIC, PTS Granada, Granada, Spain. Departamento de Genética e Instituto de Biotecnología, Universidad de Granada, Granada 18016, Spain. [Coit P] Division of Rheumatology, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA. [Saruhan-Direskeneli G] Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey. [Hernández-Rodríguez J, Cid MC] Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic, University of Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. [Solans R] Unitat de Malalties Autoimmunes Sistèmiques, Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain
dc.identifier.pmid28277489
dc.identifier.wos000395800700001
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/1PN/2008-2011/SAF2012-34435
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/2PN/2008-2011/RD12%2F0009%2F0004
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PE2013-2016/RYC-2014–16458
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PE2013-2016/PIE13%2F00033
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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