RT Journal Article
T1 Two functional variants of IRF5 influence the development of macular edema in patients with non-anterior uveitis.
A1 Márquez, Ana
A1 Cénit, María Carmen
A1 Cordero-Coma, Miguel
A1 Ortego-Centeno, Norberto
A1 Adán, Alfredo
A1 Fonollosa, Alejandro
A1 Díaz Valle, David
A1 Pato, Esperanza
A1 Blanco, Ricardo
A1 Cañal, Joaquín
A1 Díaz-Llopis, Manuel
A1 Ramón, Enrique, de
A1 Rio, María José, del
A1 García Serrano, José Luis
A1 Artaraz, Joseba
A1 Martín-Villa, José Manuel
A1 Llorenç, Víctor
A1 Gorroño-Echebarría, Marina Begoña
A1 Martín, Javier
K1 Factores reguladores del interferón
K1 Uveítis anterior
K1 Desequilibrio de ligamiento
K1 Edema macular
K1 Modelos logísticos
K1 Fenotipo
K1 Polimorfismo de nucleótido simple
AB OBJECTIVEInterferon (IFN) signaling plays a crucial role in autoimmunity. Genetic variation in interferon regulatory factor 5 (IRF5), a major regulator of the type I interferon induction, has been associated with risk of developing several autoimmune diseases. In the current study we aimed to evaluate whether three sets of correlated IRF5 genetic variants, independently associated with SLE and with different functional roles, are involved in uveitis susceptibility and its clinical subphenotypes.METHODSThree IRF5 polymorphisms, rs2004640, rs2070197 and rs10954213, representative of each group, were genotyped using TaqMan® allelic discrimination assays in a total of 263 non-anterior uveitis patients and 724 healthy controls of Spanish origin.RESULTSA clear association between two of the three analyzed genetic variants, rs2004640 and rs10954213, and the absence of macular edema was observed in the case/control analysis (P FDR =5.07E-03, OR=1.48, CI 95%=1.14-1.92 and P FDR =3.37E-03, OR=1.54, CI 95%=1.19-2.01, respectively). Consistently, the subphenotype analysis accordingly with the presence/absence of this clinical condition also reached statistical significance (rs2004640: P=0.037, OR=0.69, CI 95%=0.48-0.98; rs10954213: P=0.030, OR=0.67, CI 95%=0.47-0.96), thus suggesting that both IRF5 genetic variants are specifically associated with the lack of macular edema in uveitis patients.CONCLUSIONOur results clearly showed for the first time that two functional genetic variants of IRF5 may play a role in the development of macular edema in non-anterior uveitis patients. Identifying genetic markers for macular edema could lead to the possibility of developing novel treatments or preventive therapies.
PB Public Library of Science
YR 2013
FD 2013-10
LK http://hdl.handle.net/10668/1950
UL http://hdl.handle.net/10668/1950
LA en
NO Márquez A, Cénit MC, Cordero-Coma M, Ortego-Centeno N, Adán A, Fonollosa A, et al. Two functional variants of IRF5 influence the development of macular edema in patients with non-anterior uveitis. PLoS ONE. 2013, 8(10):e76777
NO Journal Article;
DS RISalud
RD Apr 11, 2025