Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy

Estudis d'associació de genoma; Síndromes de vasculitis

Bibliographic Details
Authors: Carmona, F. David, Coit, Patrick, Saruhan-Direskeneli, Güher, Hernández-Rodríguez, José, Cid, María C., Solans Laque, Roser
Format: article
Status:Published version
Publication Date:2017
Country:España
Institution:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repository:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:11351/5887
Online Access:https://hdl.handle.net/11351/5887
http://hdl.handle.net/11351/5887
Access Level:Open access
Keyword:Vasculitis
Arteritis de cèl·lules gegants
DISEASES::Cardiovascular Diseases::Vascular Diseases::Vasculitis
DISEASES::Nervous System Diseases::Autoimmune Diseases of the Nervous System::Vasculitis, Central Nervous System::Giant Cell Arteritis
ENFERMEDADES::enfermedades cardiovasculares::enfermedades vasculares::vasculitis
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades autoinmunitarias del sistema nervioso::vasculitis del sistema nervioso central::arteritis de células gigantes
predisposición
id ES_d4976bb8650da3b8f8a3c4d0af0cd314
oai_identifier_str oai:recercat.cat:11351/5887
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
title Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
spellingShingle Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
Carmona, F. David
Vasculitis
Arteritis de cèl·lules gegants
DISEASES::Cardiovascular Diseases::Vascular Diseases::Vasculitis
DISEASES::Nervous System Diseases::Autoimmune Diseases of the Nervous System::Vasculitis, Central Nervous System::Giant Cell Arteritis
ENFERMEDADES::enfermedades cardiovasculares::enfermedades vasculares::vasculitis
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades autoinmunitarias del sistema nervioso::vasculitis del sistema nervioso central::arteritis de células gigantes
predisposición
title_short Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
title_full Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
title_fullStr Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
title_full_unstemmed Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
title_sort Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy
dc.creator.none.fl_str_mv Carmona, F. David
Coit, Patrick
Saruhan-Direskeneli, Güher
Hernández-Rodríguez, José
Cid, María C.
Solans Laque, Roser
author Carmona, F. David
author_facet Carmona, F. David
Coit, Patrick
Saruhan-Direskeneli, Güher
Hernández-Rodríguez, José
Cid, María C.
Solans Laque, Roser
author_role author
author2 Coit, Patrick
Saruhan-Direskeneli, Güher
Hernández-Rodríguez, José
Cid, María C.
Solans Laque, Roser
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[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
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Vasculitis
Arteritis de cèl·lules gegants
DISEASES::Cardiovascular Diseases::Vascular Diseases::Vasculitis
DISEASES::Nervous System Diseases::Autoimmune Diseases of the Nervous System::Vasculitis, Central Nervous System::Giant Cell Arteritis
ENFERMEDADES::enfermedades cardiovasculares::enfermedades vasculares::vasculitis
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades autoinmunitarias del sistema nervioso::vasculitis del sistema nervioso central::arteritis de células gigantes
predisposición
topic Vasculitis
Arteritis de cèl·lules gegants
DISEASES::Cardiovascular Diseases::Vascular Diseases::Vasculitis
DISEASES::Nervous System Diseases::Autoimmune Diseases of the Nervous System::Vasculitis, Central Nervous System::Giant Cell Arteritis
ENFERMEDADES::enfermedades cardiovasculares::enfermedades vasculares::vasculitis
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades autoinmunitarias del sistema nervioso::vasculitis del sistema nervioso central::arteritis de células gigantes
predisposición
description Estudis d'associació de genoma; Síndromes de vasculitis
publishDate 2017
dc.date.none.fl_str_mv 2017
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/5887
http://hdl.handle.net/11351/5887
url https://hdl.handle.net/11351/5887
http://hdl.handle.net/11351/5887
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Scientific Reports;7
https://www.nature.com/articles/srep43953
info:eu-repo/grantAgreement/ES/1PN/2008-2011
info:eu-repo/grantAgreement/ES/2PN/2008-2011
info:eu-repo/grantAgreement/ES/PE2013-2016/RYC-2014–16458
info:eu-repo/grantAgreement/ES/PE2013-2016/PIE13%2F00033
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
dc.source.none.fl_str_mv Scientia
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869420560522412032
spelling Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategyCarmona, F. DavidCoit, PatrickSaruhan-Direskeneli, GüherHernández-Rodríguez, JoséCid, María C.Solans Laque, RoserVasculitisArteritis de cèl·lules gegantsDISEASES::Cardiovascular Diseases::Vascular Diseases::VasculitisDISEASES::Nervous System Diseases::Autoimmune Diseases of the Nervous System::Vasculitis, Central Nervous System::Giant Cell ArteritisENFERMEDADES::enfermedades cardiovasculares::enfermedades vasculares::vasculitisENFERMEDADES::enfermedades del sistema nervioso::enfermedades autoinmunitarias del sistema nervioso::vasculitis del sistema nervioso central::arteritis de células gigantespredisposiciónEstudis d'associació de genoma; Síndromes de vasculitisEstudios de asociación de genoma; Síndromes de vasculitisGenome-wide association studies; Vasculitis syndromesGiant 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.This work was supported by SAF2012–34435 from the Spanish Ministry of Economy and Competitiveness, BIO-1395 from Junta de Andalucía, and RD12/0009/0004 from the RETICS Program (RIER) of Instituto de Salud Carlos III (ISCIII). FDC was recipient of a grant from the ‘Ramón y Cajal’ programme of the Spanish Ministry of Economy and Competitiveness (RYC-2014–16458). MCC and JHR are supported by Ministerio de Economía y Competitividad (SAF 14/57708R), cofunded by “Fondo Europeo de Desarrollo Regional, Unión Europea, Una manera de hacer Europa” [Instituto de Salud Carlos III and Fondo Europeo de desarrollo regional (FEDER) (PIE 13/00033)]. The Vasculitis Clinical Research Consortium has received support from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (U54AR057319), the National Center for Research Resources (U54 RR019497), the Office of Rare Diseases Research, and the National Center for Advancing Translational Science. The VCRC is part of the Rare Diseases Clinical Research Network (RDCRN).Nature Publishing GroupInstitut Català de la Salut[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, SpainVall d'Hebron Barcelona Hospital Campus202120212017info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/11351/5887http://hdl.handle.net/11351/5887Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésScientific Reports;7https://www.nature.com/articles/srep43953info:eu-repo/grantAgreement/ES/1PN/2008-2011info:eu-repo/grantAgreement/ES/2PN/2008-2011info:eu-repo/grantAgreement/ES/PE2013-2016/RYC-2014–16458info:eu-repo/grantAgreement/ES/PE2013-2016/PIE13%2F00033Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/58872026-05-29T05:05:01Z
score 15.811543

Similar Items