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Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis

Abstract: Objective Two functional single nucleotide polymorphisms (SNP) in the PTPN22 gene (rs24746601 and rs33996649) have been associated with autoimmunity. The aim of this study was to investigate the role of the R263Q SNP for the first time and to re-evaluate the role of the R620W SNP in the genetic predisposition to systemic sclerosis (SSc) susceptibility and clinical phenotypes. Methods 3422 SSc patients (2020 with limited cutaneous SSc and 1208 with diffuse cutaneous SSc) and 3638 healthy controls of Caucasian ancestry from an initial case--control set of Spain and seven additional independent replication cohorts were included in our study. Both rs33996649 and rs2476601 PTPN22 polymorphisms were genotyped by TaqMan allelic discrimination assay. A meta-analysis was performed to test the overall effect of these PTPN22 polymorphisms in SSc. Results The meta-analysis revealed evidence of association of the rs2476601 T allele with SSc susceptibility (pFDRcorrected=0.03 pooled, OR 1.15, 95% CI 1.03 to 1.28). In addition, the rs2476601 T allele was significantly associated with anticentromere-positive status (pFDRcorrected=0.02 pooled, OR 1.22, 95% CI 1.05 to 1.42). Although the rs33996649 A allele was significantly associated with SSc in the Spanish population (pFDRcorrected=0.04, OR 0.58, 95% CI 0.36 to 0.92), this association was not confirmed in the meta-analysis (p=0.36 pooled, OR 0.89, 95% CI 0.72 to 1.1). Conclusion The study suggests that the PTPN22 R620W polymorphism influences SSc genetic susceptibility but the novel R263Q genetic variant does not. These data strengthen evidence that the R620W mutation is a common risk factor in autoimmune diseases.

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

 Fuente: Annals of the Rheumatic Diseases, 2011, 70(3), 454-462

Editorial: BMJ Publishing Group

 Fecha de publicación: 01/03/2011

Nº de páginas: 9

Tipo de publicación: Artículo de Revista

 DOI: 10.1136/ard.2010.130138

ISSN: 0003-4967,1468-2060

 Proyecto español: SAF2009-11110

Url de la publicación: https://doi.org/10.1136/ard.2010.130138

Autoría

DÍAZ- GALLO, LINA M.

GOURH, PRAVITT

BROEN, JASPER

SIMEÓN, CARMEN

FONOLLOSA, VICENTE

ORTEGO-CENTENDO, NORBERTO

AGARWAL, SANDEEP

VONK, MADELON C.

COENEN, MARIEKE

RIEMEKASTEN, GABRIELA

HUNZELMANN, NICOLAS

HESSELSTRAND, ROGER

TAN, FILEMON

REVEILLE, JOHN C.

ASSASSI, SHERVIN

GARCÍA-HERNANDEZ FRANCISCO J.

CARREIRA, PATRICIA

FERNÁNDEZ-NEBRO, ANTONIO

GARCÍA DE LA PEÑA, PALOMA