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Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis
Serrano, Aurora; Márquez, A.; 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, J.; Ortego Centeno, Norberto; Unzurrunzaga, Ainhoa; Marí-Alfonso, Begoña; Sánchez-Martin, Julio; Miguel, E. de; Magro, César; Raya, Enrique; Braun, N.; Latus, J.; Molberg, O.; Lie, Benedicte A.; Moosig, F.; Witte, Torsten; Morgan, Ann W.; González-Gay, Miguel A.; Martin, Javier
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.
Arteritis de cèl·lules gegants
Polimorfisme genètic
Genètica
Giant cell arteritis
Genetic polymorphisms
Genetics
(c) BMJ Publishing Group, 2013
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info:eu-repo/semantics/publishedVersion
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