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 (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. CONCLUSION:
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Authors | Ana Márquez, María Carmen Cénit, Miguel Cordero-Coma, Norberto Ortego-Centeno, Alfredo Adán, Alejandro Fonollosa, David Díaz Valle, Esperanza Pato, Ricardo Blanco, Joaquín Cañal, Manuel Díaz-Llopis, Enrique de Ramón, María José Del Rio, José Luis García Serrano, Joseba Artaraz, José Manuel Martín-Villa, Víctor Llorenç, Marina Begoña Gorroño-Echebarría, Javier Martín |
Journal | PloS one
(PLoS One)
Vol. 8
Issue 10
Pg. e76777
( 2013)
ISSN: 1932-6203 [Electronic] United States |
PMID | 24116155
(Publication Type: Journal Article)
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Chemical References |
- IRF5 protein, human
- Interferon Regulatory Factors
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Topics |
- Adult
- Alleles
- Female
- Gene Frequency
- Genetic Predisposition to Disease
(genetics)
- Genotype
- Haplotypes
- Humans
- Interferon Regulatory Factors
(genetics)
- Linkage Disequilibrium
- Logistic Models
- Macular Edema
(complications, genetics)
- Male
- Middle Aged
- Phenotype
- Polymorphism, Single Nucleotide
- Uveitis, Anterior
(complications)
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