Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/1950
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dc.contributor.authorMárquez, Ana-
dc.contributor.authorCénit, María Carmen-
dc.contributor.authorCordero-Coma, Miguel-
dc.contributor.authorOrtego-Centeno, Norberto-
dc.contributor.authorAdán, Alfredo-
dc.contributor.authorFonollosa, Alejandro-
dc.contributor.authorDíaz Valle, David-
dc.contributor.authorPato, Esperanza-
dc.contributor.authorBlanco, Ricardo-
dc.contributor.authorCañal, Joaquín-
dc.contributor.authorDíaz-Llopis, Manuel-
dc.contributor.authorRamón, Enrique, de-
dc.contributor.authorRio, María José, del-
dc.contributor.authorGarcía Serrano, José Luis-
dc.contributor.authorArtaraz, Joseba-
dc.contributor.authorMartín-Villa, José Manuel-
dc.contributor.authorLlorenç, Víctor-
dc.contributor.authorGorroño-Echebarría, Marina Begoña-
dc.contributor.authorMartín, Javier-
dc.date.accessioned2015-08-06T06:56:52Z-
dc.date.available2015-08-06T06:56:52Z-
dc.date.issued2013-10-
dc.identifier.citationMárquez 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):e76777es
dc.identifier.issn1932-6203 (Online)-
dc.identifier.otherPMC3792064-
dc.identifier.urihttp://hdl.handle.net/10668/1950-
dc.descriptionJournal Article;es
dc.description.abstractOBJECTIVE 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.es
dc.language.isoenes
dc.publisherPublic Library of Sciencees
dc.relation.ispartofPloS onees
dc.subjectFactores reguladores del interferónes
dc.subjectUveítis anteriores
dc.subjectDesequilibrio de ligamientoes
dc.subjectEdema maculares
dc.subjectModelos logísticoses
dc.subjectFenotipoes
dc.subjectPolimorfismo de nucleótido simplees
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleleses
dc.subject.meshMedical Subject Headings::Check Tags::Femalees
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequencyes
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Diseasees
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotypees
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypeses
dc.subject.meshMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humanses
dc.subject.meshMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Adaptor Proteins, Signal Transducing::Interferon Regulatory Factorses
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Linkage::Linkage Disequilibriumes
dc.subject.meshMedical Subject Headings::Health Care::Health Care Quality, Access, and Evaluation::Quality of Health Care::Health Care Evaluation Mechanisms::Statistics as Topic::Models, Statistical::Logistic Modelses
dc.subject.meshMedical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration::Macular Degeneration::Macular Edemaes
dc.subject.meshMedical Subject Headings::Check Tags::Malees
dc.subject.meshMedical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Agedes
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotypees
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotidees
dc.subject.meshMedical Subject Headings::Diseases::Eye Diseases::Uveal Diseases::Uveitis::Panuveitis::Uveitis, Anteriores
dc.subject.meshMedical Subject Headings::Named Groups::Persons::Age Groups::Adultes
dc.titleTwo functional variants of IRF5 influence the development of macular edema in patients with non-anterior uveitis.es
dc.typeinfo:eu-repo/semantics/articlees
dc.description.versionYeses
dc.identifier.pmid24116155-
dc.rights.accessRightsAcceso abiertoes
dc.identifier.doi10.1371/journal.pone.0076777-
dc.type.versioninfo:eu-repo/semantics/publishedes
dc.relation.publisherversionhttp://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0076777es
dc.contributor.authoraffiliation[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.es
dc.type.subtypeArtículoes
Appears in Collections:01- Artículos - Hospital Regional de Málaga
01- Artículos - Hospital San Cecilio

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