@article{10902/7487,
year = {2015},
month = {10},
url = {http://hdl.handle.net/10902/7487},
abstract = {INTRODUCTION: To determine whether the PTPN22 (protein tyrosine phosphatase nonreceptor 22)/CSK (c-src tyrosine kinase) pathway is implicated in the susceptibility and clinical heterogeneity of Henoch-Schönlein purpura (HSP) in the largest series of Caucasian HSP patients ever assessed for genetic studies. METHODS: A set of 329 Spanish patients diagnosed with HSP fulfilling the American College of Rheumatology and the Michel et al. classification criteria and 515 sex and ethnically matched controls were recruited in this study. Two well-known CSK (CSK rs34933034 and CSK rs1378942) and two functional PTPN22 (PTPN22 rs2476601 (R620W) and PTPN22 rs33996649 (R263Q)) polymorphisms, previously associated with autoimmunity, were genotyped with TaqMan single nucleotide polymorphism (SNP) genotyping assays. RESULTS: No significant differences in the genotype and allele frequencies between HSP patients and controls were observed when the CSK rs34933034, CSK rs1378942, PTPN22 rs2476601 (R620W) and PTPN22 rs33996649 (R263Q) polymorphisms were analyzed independently. In keeping with this observation, no significant differences were found when we assessed these polymorphisms combined conforming haplotypes. In addition, there were no differences in the allele or genotype frequencies when HSP patients were stratified according the age at disease onset, sex, presence of arthralgia/arthritis, nephritis or gastrointestinal manifestations. CONCLUSIONS: Our results do not support association between PTPN22/CSK and HSP.},
organization = {Acknowledgements: We wish to thank all the patients with HSP and controls who participated to
make this study possible. We want to specially thank Patricia Fuentevilla Rodríguez, María Del Camino Villa Llamazares and María Eugenia Cuadrado Mantecón for their technical assistance.
This study was supported by a grant from “Fondo de Investigaciones Sanitarias” PI12/00193 (Spain). RLM is a recipient of a Sara Borrell postdoctoral fellowship from the Instituto de Salud Carlos III at the Spanish Ministry of Health (Spain (CD12/00425). FG and BU are supported by funds
from the RETICS Program (RIER (RD12/0009/0013).},
publisher = {BioMed Central},
publisher = {Arthritis Research & Therapy. 2015 Oct 13;17:286},
title = {Role of PTPN22 and CSK gene polymorphisms as predictors of susceptibility and clinical heterogeneity in patients with Henoch-Schönlein purpura (IgA vasculitis)},
author = {López Mejías, Raquel and Genre, Fernanda and Remuzgo Martínez, Sara and Sevilla Pérez, Belén and Castañeda Sanz, Santos and Llorca Díaz, Francisco Javier and Ortego Centeno, Norberto and Ubilla García, Begoña and Mijares Díaz, Verónica and Pina Murcia, Trinitario and Calvo Río, Vanesa and Palmou Fontana, Natalia and Miranda Filloy, José Alberto and Navas Parejo, Antonio and Argila Fernández-Durán, Diego and Sánchez Pérez, Javier and Rubio Romero, Esteban and León Luque, Manuel and Blanco Madrigal, Juan María and Galíndez Aguirregoikoa, Eva},
}