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http://hdl.handle.net/2445/68401
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DC Field | Value | Language |
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dc.contributor.author | Serrano, Aurora | - |
dc.contributor.author | Márquez, Ana | - |
dc.contributor.author | Mackie, Sarah L. | - |
dc.contributor.author | Carmona, F. David | - |
dc.contributor.author | Solans, Roser | - |
dc.contributor.author | Miranda-Filloy, José A. | - |
dc.contributor.author | Hernández Rodríguez, José | - |
dc.contributor.author | Cid Xutglà, M. Cinta | - |
dc.contributor.author | Castañeda, Santos | - |
dc.contributor.author | Morado, Inmaculada C. | - |
dc.contributor.author | Narváez García, Francisco Javier | - |
dc.contributor.author | Blanco, Ricardo | - |
dc.contributor.author | Sopeña, Bernardo | - |
dc.contributor.author | García-Villanueva, María Jesús | - |
dc.contributor.author | Monfort, Jordi | - |
dc.contributor.author | Ortego Centeno, Norberto | - |
dc.contributor.author | Unzurrunzaga, Ainhoa | - |
dc.contributor.author | Marí-Alfonso, Begoña | - |
dc.contributor.author | Sánchez-Martin, Julio | - |
dc.contributor.author | Miguel, Eugenio de | - |
dc.contributor.author | Magro Checa, Cesar | - |
dc.contributor.author | Raya, Enrique | - |
dc.contributor.author | Braun, Niko | - |
dc.contributor.author | Latus, J. | - |
dc.contributor.author | Molberg, O. | - |
dc.contributor.author | Lie, Benedicte A. | - |
dc.contributor.author | Moosig, Frank | - |
dc.contributor.author | Witte, Torsten | - |
dc.contributor.author | Morgan, Ann W. | - |
dc.contributor.author | González-Gay, Miguel A. | - |
dc.contributor.author | Martín, Javier | - |
dc.date.accessioned | 2015-12-11T17:04:56Z | - |
dc.date.available | 2015-12-11T17:04:56Z | - |
dc.date.issued | 2013 | - |
dc.identifier.issn | 0003-4967 | - |
dc.identifier.uri | http://hdl.handle.net/2445/68401 | - |
dc.description.abstract | Objective: To analyse the role of the PTPN22 and CSK genes, previously associated with autoimmunity, in the predisposition and clinical phenotypes of giant cell arteritis (GCA). Methods: Our study population was composed of 911 patients diagnosed with biopsy-proven GCA and 8136 unaffected controls from a Spanish discovery cohort and three additional independent replication cohorts from Germany, Norway and the UK. Two functional PTPN22 polymorphisms (rs2476601/R620W and rs33996649/R263Q) and two variants of the CSK gene (rs1378942 and rs34933034) were genotyped using predesigned TaqMan assays. Results: The analysis of the discovery cohort provided evidence of association of PTPN22 rs2476601/R620W with GCA (PFDR=1.06E-04, OR=1.62, CI 95% 1.29 to 2.04). The association did not appear to follow a specific GCA subphenotype. No statistically significant differences between allele frequencies for the other PTPN22 and CSK genetic variants were evident either in the case/control or in stratified case analysis. To confirm the detected PTPN22 association, three replication cohorts were genotyped, and a consistent association between the PTPN22 rs2476601/R620W variant and GCA was evident in the overall meta-analysis (PMH=2.00E-06, OR=1.51, CI 95% 1.28 to 1.79). Conclusions: Our results suggest that the PTPN22 polymorphism rs2476601/R620W plays an important role in the genetic risk to GCA. | - |
dc.format.extent | 5 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | BMJ Publishing Group | - |
dc.relation.isformatof | Reproducció del document publicat a: http://dx.doi.org/10.1136/annrheumdis-2013-203641 | - |
dc.relation.ispartof | Annals of the Rheumatic Diseases, 2013, vol. 72, p. 1882-1886 | - |
dc.relation.uri | http://dx.doi.org/10.1136/annrheumdis-2013-203641 | - |
dc.rights | (c) BMJ Publishing Group, 2013 | - |
dc.source | Articles publicats en revistes (Medicina) | - |
dc.subject.classification | Arteritis de cèl·lules gegants | - |
dc.subject.classification | Polimorfisme genètic | - |
dc.subject.classification | Genètica | - |
dc.subject.other | Giant cell arteritis | - |
dc.subject.other | Genetic polymorphisms | - |
dc.subject.other | Genetics | - |
dc.title | Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 641081 | - |
dc.date.updated | 2015-12-11T17:04:56Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 23946333 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) Articles publicats en revistes (Medicina) |
Files in This Item:
File | Description | Size | Format | |
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641081.pdf | 213.73 kB | Adobe PDF | View/Open |
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