Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/1950
Título : Two functional variants of IRF5 influence the development of macular edema in patients with non-anterior uveitis.
Autor : Márquez, Ana
Cénit, María Carmen
Cordero-Coma, Miguel
Ortego-Centeno, Norberto
Adán, Alfredo
Fonollosa, Alejandro
Díaz Valle, David
Pato, Esperanza
Blanco, Ricardo
Cañal, Joaquín
Díaz-Llopis, Manuel
Ramón, Enrique, de
Rio, María José, del
García Serrano, José Luis
Artaraz, Joseba
Martín-Villa, José Manuel
Llorenç, Víctor
Gorroño-Echebarría, Marina Begoña
Martín, Javier
Filiación: [Márquez,A; Cénit,MC; Martín,J] Instituto de Parasitología y Biomedicina López-Neyra, IPBLN, CSIC, Granada, Spain. [Cordero-Coma,M] Ophthalmology Department, Hospital de León, Spain. [Ortego-Centeno,N] Internal Medicine Department, Hospital Clínico San Cecilio, Granada, Spain. [Adán,A; Llorenç,V] Ophthalmology Department, Hospital Clínic, Barcelona, Spain. [Fonollosa,A; Artaraz,J] Ophthalmology Department, Hospital de Cruces, Bilbao, Spain. [Díaz Valle,D] Ophthalmology Department, Hospital Clínico San Carlos, Madrid, Spain. [Pato,E] Rheumatology Department, Hospital Clínico San Carlos, Madrid, Spain. [Blanco,R] Rheumatology Department, Hospital Marqués de Valdecilla, IFIMAV, Santander, Spain. [Cañal,J] Ophthalmology Department, Hospital Marqués de Valdecilla, IFIMAV, Santander, Spain. [Díaz-Llopis,M] Ophthalmology Department, Hospital La Fe, Valencia, Spain.[Ramón,E de] Internal Medicine Department, Hospital Carlos Haya, Málaga, Spain. [Rio,MJ del] Ophthalmology Department, Hospital Carlos Haya, Málaga, Spain. [García Serrano,JL] Ophthalmology Department, Hospital Clínico San Cecilio, Granada, Spain. [Martín-Villa,JM] Immunology Department, Facultad de Medicina, Universidad Complutense de Madrid, Spain. [Gorroño-Echebarría,MB] Ophthalmology Department, Hospital Principe de Asturias, Alcalá de Henares, Spain.
Palabras clave : Factores reguladores del interferón
Uveítis anterior
Desequilibrio de ligamiento
Edema macular
Modelos logísticos
Fenotipo
Polimorfismo de nucleótido simple
MeSH: Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequency
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Adaptor Proteins, Signal Transducing::Interferon Regulatory Factors
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage Disequilibrium
Medical Subject Headings::Health Care::Health Care Quality, Access, and Evaluation::Quality of Health Care::Health Care Evaluation Mechanisms::Statistics as Topic::Models, Statistical::Logistic Models
Medical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration::Macular Degeneration::Macular Edema
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
Medical Subject Headings::Diseases::Eye Diseases::Uveal Diseases::Uveitis::Panuveitis::Uveitis, Anterior
Medical Subject Headings::Named Groups::Persons::Age Groups::Adult
Fecha de publicación : Oct-2013
Editorial : Public Library of Science
Cita Bibliográfica: 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
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 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.
Descripción : Journal Article;
URI: http://hdl.handle.net/10668/1950
Versión del editor : http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0076777
DOI: 10.1371/journal.pone.0076777
ISSN : 1932-6203 (Online)
Appears in Collections:01- Artículos - Hospital Regional de Málaga
01- Artículos - Hospital San Cecilio

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