Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/1421
Título : Evidence of new risk genetic factor to systemic lupus erythematosus: the UBASH3A gene
Autor : Diaz-Gallo, Lina-Marcela
Sánchez, Elena
Ortego-Centeno, Norberto
Sabio, Jose Mario
García-Hernández, Francisco J
Ramón, Enrique de
González-Gay, Miguel A.
Witte, Torsten
Anders, Hans-Joachim
González-Escribano, Maria F
Martin, Javier
Filiación: [Diaz-Gallo,LM; Sánchez,E; Martin,J] Cellular Biology and Immunology Department, Instituto de Parasitología y Biomedicina ‘‘López-Neyra’’, Consejo Superior de Investigaciones Científicas (IPBLN- Consejo Superior de Investigaciones Científicas), Granada, Spain. [Ortego-Centeno,N] Department of Internal Medicine, Hospital Clínico San Cecilio, Granada, Spain. [Sabio,JM] Department of Internal Medicine, Hospital Virgen de las Nieves, Granada, Spain. [García-Hernández,FJ] Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain. [Ramón,E de] Department of Internal Medicine, Hospital Carlos Haya, Málaga, Spain. [González-Gay,MA] Department of Rheumatology, Instituto de Formación e Investigación Marqués de Valdecilla, Hospital Universitario Marqués de Valdecilla, Santander, Spain. [Witte,T] Department of Clinical Immunology and Rheumatology, Hannover Medical School, Hannover, Germany. [Anders,HJ] Medical department and policlinic IV, Klinikum der Universitat, München, Munich, Germany. [González-Escribano,MF] Department of Immunology, Hospital Virgen del Rocío, Sevilla, Spain.
Palabras clave : UBASH3A protein, human
Adaptor Proteins, Signal Transducing
Alelos
Predisposición Genética a la Enfermedad
Humanos
Desequilibrio de Ligamiento
Lupus Eritematoso Sistémico
Polimorfismo de Nucleótido Simple
Sitios de Carácter Cuantitativo
Proteínas Adaptadoras Transductoras de Señales
MeSH: Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Linkage
Medical Subject Headings::Diseases::Skin and Connective Tissue Diseases::Connective Tissue Diseases::Lupus Erythematosus, Systemic
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genetic Loci::Quantitative Trait Loci
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Adaptor Proteins, Signal Transducing
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Fecha de publicación : 2-Apr-2013
Editorial : Public Library of Science
Cita Bibliográfica: Diaz-Gallo L-M, Sánchez E, Ortego-Centeno N, Sabio JM, García-Hernández FJ, et al. Evidence of New Risk Genetic Factor to Systemic Lupus Erythematosus: The UBASH3A Gene. PLoS ONE. 2013; 8(4): e60646.
Abstract: The ubiquitin associated and Src-homology 3 (SH3) domain containing A (UBASH3a) is a suppressor of T-cell receptor signaling, underscoring antigen presentation to T-cells as a critical shared mechanism of diseases pathogenesis. The aim of the present study was to determine whether the UBASH3a gene influence the susceptibility to systemic lupus erythematosus (SLE) in Caucasian populations. We evaluated five UBASH3a polymorphisms (rs2277798, rs2277800, rs9976767, rs13048049 and rs17114930), using TaqMan® allelic discrimination assays, in a discovery cohort that included 906 SLE patients and 1165 healthy controls from Spain. The SNPs that exhibit statistical significance difference were evaluated in a German replication cohort of 360 SLE patients and 379 healthy controls. The case-control analysis in the Spanish population showed a significant association between the rs9976767 and SLE (Pc = 9.9E-03 OR = 1.21 95%CI = 1.07-1.37) and a trend of association for the rs2277798 analysis (P = 0.09 OR = 0.9 95%CI = 0.79-1.02). The replication in a German cohort and the meta-analysis confirmed that the rs9976767 (Pc = 0.02; Pc = 2.4E-04, for German cohort and meta-analysis, respectively) and rs2277798 (Pc = 0.013; Pc = 4.7E-03, for German cohort and meta-analysis, respectively) UBASH3a variants are susceptibility factors for SLE. Finally, a conditional regression analysis suggested that the most likely genetic variation responsible for the association was the rs9976767 polymorphism. Our results suggest that UBASH3a gene plays a role in the susceptibility to SLE. Moreover, our study indicates that UBASH3a can be considered as a common genetic factor in autoimmune diseases.
Descripción : Journal Article; Research Support, Non-U.S. Gov't;
URI: http://hdl.handle.net/10668/1421
Versión del editor : http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0060646
DOI: 10.1371/journal.pone.0060646
ISSN : 1932-6203 (Online)
Appears in Collections:01- Artículos - Hospital San Cecilio
01- Artículos - Hospital Regional de Málaga
01- Artículos - Hospital Virgen de las Nieves
01- Artículos - Hospital Virgen del Rocío

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