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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
Giant cell arteritis
Genetic polymorphisms
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:
It is part of: Annals of the Rheumatic Diseases, 2013, vol. 72, p. 1882-1886
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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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