Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/2556
Title: Role of PTPN22 and CSK gene polymorphisms as predictors of susceptibility and clinical heterogeneity in patients with Henoch-Schönlein purpura (IgA vasculitis).
Authors: López-Mejías, Raquel
Genre, Fernanda
Remuzgo-Martínez, Sara
Sevilla Pérez, Belén
Castañeda, Santos
Llorca, Javier
Ortego-Centeno, Norberto
Ubilla, Begoña
Mijares, Verónica
Pina, Trinitario
Calvo-Río, Vanesa
Palmou, Natalia
Miranda-Filloy, José A
Navas Parejo, Antonio
Argila, Diego
Sánchez-Pérez, Javier
Rubio, Esteban
León Luque, Manuel
Blanco-Madrigal, Juan María
Galíndez-Aguirregoikoa, Eva
Ocejo-Vinyals, J Gonzalo
Martín, Javier
Blanco, Ricardo
González-Gay, Miguel A
metadata.dc.contributor.authoraffiliation: [López-Mejías,R; Genre,F; Remuzgo-Martínez,S; Ubilla,B; Mijares,V; Pina,T; Calvo-Río,V; Palmou,N; Blanco,R; González-Gay,MA] Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, Rheumatology Division, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander, Spain. [Sevilla Pérez,B; Ortego-Centeno,N] Department of Medicine, Hospital Universitario San Cecilio, Granada, Spain. [Castañeda,S] Rheumatology Department, Hospital Universitario La Princesa, IIS-Princesa, Madrid, Spain. [Llorca,J] Epidemiology and Computational Biology Department, School of Medicine, University of Cantabria, and CIBER Epidemiología y Salud Pública (CIBERESP), IDIVAL, Santander, Spain. [Miranda-Filloy,JA] Division of Rheumatology, Hospital Universitario Lucus Augusti, Lugo, Spain. [Navas Parejo,A] Nephrology Department, Hospital Universitario San Cecilio, Granada, Spain. [Argila,D; Sánchez-Pérez,J] Dermatology Department, Hospital Universitario La Princesa, IIS-Princesa, Madrid, Spain. [Rubio,E; León Luque,M] Rheumatology Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Blanco-Madrigal,JM; Galíndez-Aguirregoikoa,E] Rheumatology Department, Hospital Universitario de Basurto, Bilbao, Spain. [Ocejo-Vinyals,JG] Immunology Department, Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Martín,J] Institute of Parasitology and Biomedicine López-Neyra, CSIC, Granada, Spain. [González-Gay,MA] Cardiovascular Pathophysiology and Genomics Research Unit, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Keywords: Niño;Femenino;Frecuencia de los genes;Adulto;Predisposición genética a la enfermedad;Genotipo;Humanos;Masculino;Polimorfismo de nucleótido simple;Proteína tirosina fosfatasa no receptora tipo 22;Púrpura de Schoenlein-Henoch;Reacción en cadena en tiempo real de la polimerasa;España
metadata.dc.subject.mesh: Medical Subject Headings::Named Groups::Persons::Age Groups::Child
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequency
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
Medical Subject Headings::Diseases::Hemic and Lymphatic Diseases::Hematologic Diseases::Blood Coagulation Disorders::Purpura::Purpura, Schoenlein-Henoch
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction::Real-Time Polymerase Chain Reaction
Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
Medical Subject Headings::Named Groups::Persons::Age Groups::Adult
Issue Date: 13-Oct-2015
Publisher: BioMed Central
Citation: 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
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.
Description: Journal Article; Research Support, Non-U.S. Gov't;
URI: http://hdl.handle.net/10668/2556
metadata.dc.relation.publisherversion: https://arthritis-research.biomedcentral.com/articles/10.1186/s13075-015-0796-x#Abs1
metadata.dc.identifier.doi: 10.1186/s13075-015-0796-x
ISSN: 1478-6362 (Online)
1478-6354 (Print)
Appears in Collections:01- Artículos - Complejo Hospitalario Universitario de Granada
01- Artículos - Hospital Virgen del Rocío

Files in This Item:
File Description SizeFormat 
LopezMejias_RoleOfPTPN22.pdfArtículo publicado420,06 kBAdobe PDFView/Open
LopezMejias_RoleOfPTPN22Table1.docMaterial suplementario26,5 kBMicrosoft WordView/Open
LopezMejias_RoleOfPTPN22Table2.docArchivo complementario33 kBMicrosoft WordView/Open
LopezMejias_RoleOfPTPN22Table3.docArchivo complementario77,5 kBMicrosoft WordView/Open


This item is protected by original copyright



This item is licensed under a Creative Commons License Creative Commons