RT Journal Article
T1 Role of PTPN22 and CSK gene polymorphisms as predictors of susceptibility and clinical heterogeneity in patients with Henoch-Schönlein purpura (IgA vasculitis).
A1 López-Mejías, Raquel
A1 Genre, Fernanda
A1 Remuzgo-Martínez, Sara
A1 Sevilla Pérez, Belén
A1 Castañeda, Santos
A1 Llorca, Javier
A1 Ortego-Centeno, Norberto
A1 Ubilla, Begoña
A1 Mijares, Verónica
A1 Pina, Trinitario
A1 Calvo-Río, Vanesa
A1 Palmou, Natalia
A1 Miranda-Filloy, José A
A1 Navas Parejo, Antonio
A1 Argila, Diego
A1 Sánchez-Pérez, Javier
A1 Rubio, Esteban
A1 León Luque, Manuel
A1 Blanco-Madrigal, Juan María
A1 Galíndez-Aguirregoikoa, Eva
A1 Ocejo-Vinyals, J Gonzalo
A1 Martín, Javier
A1 Blanco, Ricardo
A1 González-Gay, Miguel A
K1 Niño
K1 Femenino
K1 Frecuencia de los genes
K1 Adulto
K1 Predisposición genética a la enfermedad
K1 Genotipo
K1 Humanos
K1 Masculino
K1 Polimorfismo de nucleótido simple
K1 Proteína tirosina fosfatasa no receptora tipo 22
K1 Púrpura de Schoenlein-Henoch
K1 Reacción en cadena en tiempo real de la polimerasa
K1 España
AB INTRODUCTIONTo 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.METHODSA 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.RESULTSNo 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.CONCLUSIONSOur results do not support association between PTPN22/CSK and HSP.
PB BioMed Central
SN 1478-6354
YR 2015
FD 2015-10-13
LK http://hdl.handle.net/10668/2556
UL http://hdl.handle.net/10668/2556
LA en
NO López-Mejías R, Genre F, Remuzgo-Martínez S, Pérez BS, Castañeda S, Llorca J, et al. Role of PTPN22 and CSK gene polymorphisms as predictors of susceptibility and clinical heterogeneity in patients with Henoch-Schönlein purpura (IgA vasculitis). Arthritis Res. Ther. 2015; 17:286
NO Journal Article; Research Support, Non-U.S. Gov't;
DS RISalud
RD Apr 10, 2025