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A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis.

dc.contributor.authorBossini-Castillo, Lara
dc.contributor.authorSimeon, Carmen P
dc.contributor.authorBeretta, Lorenzo
dc.contributor.authorBroen, Jasper C
dc.contributor.authorVonk, Madelon C
dc.contributor.authorRíos-Fernández, Raquel
dc.contributor.authorEspinosa, Gerard
dc.contributor.authorCarreira, Patricia
dc.contributor.authorCamps, María T
dc.contributor.authorCastillo, Maria J
dc.contributor.authorGonzález-Gay, Miguel A
dc.contributor.authorBeltrán, Emma
dc.contributor.authorCarmen Freire, María del
dc.contributor.authorNarváez, Javier
dc.contributor.authorTolosa, Carlos
dc.contributor.authorWitte, Torsten
dc.contributor.authorKreuter, Alexander
dc.contributor.authorSchuerwegh, Annemie J
dc.contributor.authorHoffmann-Vold, Anna-Maria
dc.contributor.authorHesselstrand, Roger
dc.contributor.authorLunardi, Claudio
dc.contributor.authorvan Laar, Jacob M
dc.contributor.authorChee, Meng May
dc.contributor.authorHerrick, Ariane
dc.contributor.authorKoeleman, Bobby Pc
dc.contributor.authorDenton, Christopher P
dc.contributor.authorFonseca, Carmen
dc.contributor.authorRadstake, Timothy Rdj
dc.contributor.authorMartin, Javier
dc.contributor.authoraffiliation[Bossini-Castillo,L; Martín,J] Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, Granada, Spain. [Simeon,CP] Servicio de Medicina Interna, Hospital Valle de Hebron, Barcelona, Spain. [Beretta,L] IRCCS Fondazione Policlinico-Mangiagalli-Regina Elena and University of Milan, Allergy, Clinical Immunology and Rheumatology, Milan, Italy. [Broen,JC; Vonk,MC] Department of Rheumatology, Radboud University Nijmegen Medical CentreNijmegen, The Netherlands. [Ríos-Fernández,R] Servicio de Medicina Interna, Hospital Clínico Universitario, Granada, Spain. [Espinosa,G] Servicio de Enfermedades Autoinmunes, Hospital Clinic, Barcelona, Spain. [Carreira,P] Servicio de Reumatología, Hospital 12 de Octubre, Madrid, Spain. [Camps,MT] Servicio de Medicina Interna, Hospital Carlos Haya, Málaga, Spain. [Castillo,MJ] Servicio de Medicina Interna, Hospital Virgen del Rocío, Sevilla, Spain. [González-Gay,MA] Servicio de Reumatología, Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Spain. [Beltran,E] Servicio de Reumatología, Hospital del Doctor Peset Aleixandre, Valencia, Spain. [Freire,M del C] Unidad Trombosis y Vasculitis, Servicio de Medicina Interna, Hospital Xeral-Complexo Hospitalario Universitario de Vigo, Vigo, Spain. [Narváez,J] Servicio de Reumatología, Hospital Universitario de Bellvitge, Barcelona, Spain. [Tolosa,C] Servicio de Medicina Interna, Hospital Parc Taulí, Sabadell, Spain. [Witte,T] Hannover Medical School, Hannover, Germany. [Kreuter,A] Ruhr University of Bochum, Bochum, Germany. [Schuerwegh,AJ] Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands. [Hoffmann-Vold,A-M] Department of Rheumatology, Rikshospitalet, Oslo University Hospital, Rikshospitalet-Radiumhospitalet Medical Center, Oslo, Norway. [Hesselstrand,R] Department of Rheumatology, Lund University, Lund, Sweden. [Lunardi,C] Department of Medicine, Università degli Studi di Verona Verona, Italy. [Van Laar,JM] Institute of Cellular Medicine, Newcastle University, NewcastleUK. [Chee,MM] Centre for Rheumatic Diseases, Glasgow Royal Infirmary, Glasgow, UK. [Herrick,A] Arthritis Research UK Epidemiology Unit, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK. [Koeleman,BPC] Section Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, , The Netherlands. [Denton,CP; Fonseca,C] Centre for Rheumatology, Royal Free and University College Medical School, University College London, London, UK. [Radstake,TRDJ] Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht, The Netherlands.es
dc.contributor.funderThis work was supported by the following grants: GENFER from the Spanish Society of Rheumatology, SAF2009-11110 from the Spanish Ministry of Science, CTS-4977 from Junta de Andalucía, Spain, in part by Redes Temáticas de Investigación Cooperativa Sanitaria Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (ISCIII), Spain and by Fondo Europeo de Desarrollo Regional (FEDER). The VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). The Orphan Disease Program grant from the European League Against Rheumatism (EULAR). The Dutch Diabetes Research Foundation (grant 2008.40.001) and the Dutch Arthritis Foundation (Reumafonds, grant NR 09-1-408). DFG WI 1031/6.1. This study was also funded by PI-0590-2010, Consejería de Salud, Junta de Andalucía, Spain.
dc.contributor.groupThe Spanish Scleroderma Groupes
dc.date.accessioned2013-10-02T13:03:56Z
dc.date.available2013-10-02T13:03:56Z
dc.date.issued2012-04-24
dc.descriptionJournal Article; Multicenter Study; Research Support, Non-U.S. Gov't;es
dc.description.abstractINTRODUCTION CD226 genetic variants have been associated with a number of autoimmune diseases and recently with systemic sclerosis (SSc). The aim of this study was to test the influence of CD226 loci in SSc susceptibility, clinical phenotypes and autoantibody status in a large multicenter European population. METHODS A total of seven European populations of Caucasian ancestry were included, comprising 2,131 patients with SSc and 3,966 healthy controls. Three CD226 single nucleotide polymorphisms (SNPs), rs763361, rs3479968 and rs727088, were genotyped using Taqman 5'allelic discrimination assays. RESULTS Pooled analyses showed no evidence of association of the three SNPs, neither with the global disease nor with the analyzed subphenotypes. However, haplotype block analysis revealed a significant association for the TCG haplotype (SNP order: rs763361, rs34794968, rs727088) with lung fibrosis positive patients (PBonf = 3.18E-02 OR 1.27 (1.05 to 1.54)). CONCLUSION Our data suggest that the tested genetic variants do not individually influence SSc susceptibility but a CD226 three-variant haplotype is related with genetic predisposition to SSc-related pulmonary fibrosis.es
dc.description.versionYeses
dc.identifier.citationBossini-Castillo L, Simeon CP, Beretta L, Broen JC, Vonk MC, Ríos-Fernández R, et al. A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis. Arthritis Res. Ther.2012; 14(2):R85es
dc.identifier.doi10.1186/ar3809
dc.identifier.essn1478-6362
dc.identifier.issn1478-6354
dc.identifier.pmcPMC3446459
dc.identifier.pmid22531499
dc.identifier.urihttp://hdl.handle.net/10668/1308
dc.journal.titleArthritis research & therapy
dc.language.isoen
dc.publisherBioMed Centrales
dc.relation.publisherversionhttp://arthritis-research.com/content/14/2/R85/abstractes
dc.rights.accessRightsopen access
dc.subjectAntígenos de diferenciación de linfocitos Tes
dc.subjectEstudios de cohorteses
dc.subjectEstudios de asociación genéticaes
dc.subjectGenotipoes
dc.subjectFibrosis pulmonares
dc.subjectEsclerodermia sistémicaes
dc.subject.meshMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studieses
dc.subject.meshMedical Subject Headings::Check Tags::Femalees
dc.subject.meshMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studieses
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variationes
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotypees
dc.subject.meshMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humanses
dc.subject.meshMedical Subject Headings::Check Tags::Malees
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotidees
dc.subject.meshMedical Subject Headings::Diseases::Respiratory Tract Diseases::Lung Diseases::Pulmonary Fibrosises
dc.subject.meshMedical Subject Headings::Diseases::Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemices
dc.subject.meshMedical Subject Headings::Chemicals and Drugs::Biological Factors::Biological Markers::Antigens, Differentiation::Antigens, Differentiation, T-Lymphocytees
dc.titleA multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis.es
dc.typeresearch article
dc.type.hasVersionVoR
dspace.entity.typePublication

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