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Title: | Two functional variants of IRF5 influence the development of macular edema in patients with non-anterior uveitis. |
Author: | Márquez, Ana Cenit, Maria Carmen Cordero Coma, Miguel Ortego Centeno, Norberto Adán Civera, Alfredo Fonollosa, Alejandro Díaz Valle, David Pato, Esperanza Blanco, Ricardo Cañal, Joaquín Díaz-Llopis, Manuel de Ramón, Enrique Del Rio, María José García Serrano, José Luis Artaraz, Joseba Martín-Villa, José Manuel Llorenç, Victor Gorroño-Echebarría, Marina Begoña Martín, Javier |
Keywords: | Oftalmologia Autoimmunitat Interferó Ophthalmology Autoimmunity Interferon |
Issue Date: | 7-Oct-2013 |
Publisher: | Public Library of Science (PLoS) |
Abstract: | Objective Interferon (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. Methods Three 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. Results A 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 (PFDR=5.07E-03, OR=1.48, CI 95%=1.14-1.92 and PFDR=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. Conclusion Our 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1371/journal.pone.0076777 |
It is part of: | PLoS One, 2013, vol. 8, num. 10, p. 1-6 |
URI: | http://hdl.handle.net/2445/123836 |
Related resource: | https://doi.org/10.1371/journal.pone.0076777 |
ISSN: | 1932-6203 |
Appears in Collections: | Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques) |
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