Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis

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dc.contributor.author	Serrano, Aurora
dc.contributor.author	Márquez, A.
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, J.
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, E. de
dc.contributor.author	Magro, César
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, F.
dc.contributor.author	Witte, Torsten
dc.contributor.author	Morgan, Ann W.
dc.contributor.author	González-Gay, Miguel A.
dc.contributor.author	Martin, Javier
dc.date	2015-12-11T17:04:56Z
dc.date	2015-12-11T17:04:56Z
dc.date	2013
dc.date	2015-12-11T17:04:56Z
dc.identifier.citation	0003-4967
dc.identifier.citation	641081
dc.identifier.uri	http://hdl.handle.net/2445/68401
dc.format	5 p.
dc.format	application/pdf
dc.language.iso	eng
dc.publisher	BMJ Publishing Group
dc.relation	Reproducció del document publicat a: http://dx.doi.org/10.1136/annrheumdis-2013-203641
dc.relation	Annals of the Rheumatic Diseases, 2013, vol. 72, p. 1882-1886
dc.relation	http://dx.doi.org/10.1136/annrheumdis-2013-203641
dc.rights	(c) BMJ Publishing Group, 2013
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	Arteritis de cèl·lules gegants
dc.subject	Polimorfisme genètic
dc.subject	Genètica
dc.subject	Giant cell arteritis
dc.subject	Genetic polymorphisms
dc.subject	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.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.

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