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Title: Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis
Author: Serrano, Aurora
Márquez, A.
Mackie, S. 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, J.
Ortego Centeno, Norberto
Unzurrunzaga, Ainhoa
Marí-Alfonso, Begoña
Sánchez-Martin, Julio
Miguel, E. de
Magro, C.
Raya, E.
Braun, N.
Latus, J.
Molberg, O.
Lie, Benedicte A.
Moosig, F.
Witte, Torsten
Morgan, A.W.
González-Gay, Miguel A.
Martin, 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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