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Two functional variants of IRF5 influence the development of macular edema in patients with non-anterior uveitis.

Authors :
Márquez A
Cénit MC
Cordero-Coma M
Ortego-Centeno N
Adán A
Fonollosa A
Díaz Valle D
Pato E
Blanco R
Cañal J
Díaz-Llopis M
de Ramón E
Del Rio MJ
García Serrano JL
Artaraz J
Martín-Villa JM
Llorenç V
Gorroño-Echebarría MB
Martín J
Source :
PloS one [PLoS One] 2013 Oct 07; Vol. 8 (10), pp. e76777. Date of Electronic Publication: 2013 Oct 07 (Print Publication: 2013).
Publication Year :
2013

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.<br />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.<br />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 (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.<br />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.

Details

Language :
English
ISSN :
1932-6203
Volume :
8
Issue :
10
Database :
MEDLINE
Journal :
PloS one
Publication Type :
Academic Journal
Accession number :
24116155
Full Text :
https://doi.org/10.1371/journal.pone.0076777