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http://hdl.handle.net/2445/68401
Title: | Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis |
Author: | Serrano, Aurora Márquez, Ana Mackie, Sarah L. Carmona, F. David Solans, Roser Miranda-Filloy, José A. Hernández Rodríguez, José Cid Xutglà, M. Cinta Castañeda, Santos Morado, Inmaculada C. Narváez García, Francisco Javier Blanco, Ricardo Sopeña, Bernardo García-Villanueva, María Jesús Monfort, Jordi Ortego Centeno, Norberto Unzurrunzaga, Ainhoa Marí-Alfonso, Begoña Sánchez-Martin, Julio Miguel, Eugenio de Magro Checa, Cesar Raya, Enrique Braun, Niko Latus, J. Molberg, O. Lie, Benedicte A. Moosig, Frank Witte, Torsten Morgan, Ann W. González-Gay, Miguel A. Martín, Javier |
Keywords: | Arteritis de cèl·lules gegants Polimorfisme genètic Genètica Giant cell arteritis Genetic polymorphisms Genetics |
Issue Date: | 2013 |
Publisher: | BMJ Publishing Group |
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. |
Note: | Reproducció del document publicat a: http://dx.doi.org/10.1136/annrheumdis-2013-203641 |
It is part of: | Annals of the Rheumatic Diseases, 2013, vol. 72, p. 1882-1886 |
URI: | http://hdl.handle.net/2445/68401 |
Related resource: | http://dx.doi.org/10.1136/annrheumdis-2013-203641 |
ISSN: | 0003-4967 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) Articles publicats en revistes (Medicina) |
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