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 Detalle_Publicacion

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

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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Annals of the Rheumatic Diseases, 2013, 72(11), 1882-1886

Editorial: BMJ Publishing Group

 Fecha de publicación: 01/11/2013

Nº de páginas: 6

Tipo de publicación: Artículo de Revista

 DOI: 10.1136/annrheumdis-2013-203641

ISSN: 0003-4967,1468-2060

Url de la publicación: https://doi.org/10.1136/annrheumdis-2013-203641

Autoría

SERRANO, AURORA

MÁRQUEZ, ANA

MACKIE, SARAH L.

CARMONA, F. DAVID

SOLANS, ROSER

MIRANDA-FILLOY, JOSÉ ALBERTO

HERNÁNDEZ-RODRÍGUEZ, JOSÉ

CID, MARÍA C.

CASTAÑEDA, SANTOS

MORADO, INMACULADA C.

NARVÁEZ, JAVIER

SOPEÑA, BERNARDO

GARCÍA-VILLANUEVA, MARÍA JESÚS

MONFORT, JORDI

ORTEGO-CENTENO, NORBERTO

UNZURRUNZAGA, AINHOA

MARÍ-ALFONSO, BEGOÑA

SÁNCHEZ-MARTÍN, JULIO