RT Journal Article
T1 Evidence of new risk genetic factor to systemic lupus erythematosus: the UBASH3A gene
A1 Diaz-Gallo, Lina-Marcela
A1 Sánchez, Elena
A1 Ortego-Centeno, Norberto
A1 Sabio, Jose Mario
A1 García-Hernández, Francisco J
A1 Ramón, Enrique de
A1 González-Gay, Miguel A.
A1 Witte, Torsten
A1 Anders, Hans-Joachim
A1 González-Escribano, Maria F
A1 Martin, Javier
K1 UBASH3A protein, human
K1 Adaptor Proteins, Signal Transducing
K1 Alelos
K1 Predisposición Genética a la Enfermedad
K1 Humanos
K1 Desequilibrio de Ligamiento
K1 Lupus Eritematoso Sistémico
K1 Polimorfismo de Nucleótido Simple
K1 Sitios de Carácter Cuantitativo
K1 Proteínas Adaptadoras Transductoras de Señales
AB 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.
PB Public Library of Science
YR 2013
FD 2013-04-02
LK http://hdl.handle.net/10668/1421
UL http://hdl.handle.net/10668/1421
LA en
NO 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.
NO Journal Article; Research Support, Non-U.S. Gov't;
DS RISalud
RD Mar 13, 2025