Cénit, María CarmenMárquez, AnaCordero-Coma, MiguelGorroño-Echebarría, Marina BegoñaFonollosa, AlejandroAdán, AlfredoMartínez-Berriotxoa, AgustínDíaz Valle, DavidPato, EsperanzaBlanco, RicardoCañal, JoaquínDíaz-Llopis, ManuelGarcía Serrano, José Luisde Ramón, EnriqueDel Rio, María JoséMartín-Villa, José ManuelMolins, BlancaOrtego-Centeno, NorbertoMartín, Javier2015-09-112015-09-112013Cénit MC, Márquez A, Cordero-Coma M, Gorroño-Echebarría MB, Fonollosa A, Adán A, et al. No evidence of association between common autoimmunity STAT4 and IL23R risk polymorphisms and non-anterior uveitis. PLoS ONE. 2013, 8(11):e72892http://hdl.handle.net/10668/1987Journal Article;OBJECTIVE: STAT4 and IL23R loci represent common susceptibility genetic factors in autoimmunity. We decided to investigate for the first time the possible role of different STAT4/IL23R autoimmune disease-associated polymorphisms on the susceptibility to develop non-anterior uveitis and its main clinical phenotypes. METHODS Four functional polymorphisms (rs3821236, rs7574865, rs7574070, and rs897200) located within STAT4 gene as well as three independent polymorphisms (rs7517847, rs11209026, and rs1495965) located within IL23R were genotyped using TaqMan® allelic discrimination in a total of 206 patients with non-anterior uveitis and 1553 healthy controls from Spain. RESULTS No statistically significant differences were found when allele and genotype distributions were compared between non-anterior uveitis patients and controls for any STAT4 (rs3821236: P=0.39, OR=1.12, CI 95%=0.87-1.43; rs7574865: P=0.59 OR=1.07, CI 95%=0.84-1.37; rs7574070: P=0.26, OR=0.89, CI 95%=0.72-1.10; rs897200: P=0.22, OR=0.88, CI 95%=0.71-1.08;) or IL23R polymorphisms (rs7517847: P=0.49, OR=1.08, CI 95%=0.87-1.33; rs11209026: P=0.26, OR=0.78, CI 95%=0.51-1.21; rs1495965: P=0.51, OR=0.93, CI 95%=0.76-1.15). CONCLUSION Our results do not support a relevant role, similar to that described for other autoimmune diseases, of IL23R and STAT4 polymorphisms in the non-anterior uveitis genetic predisposition. Further studies are needed to discard a possible weak effect of the studied variant.enReceptors, InterleukinSTAT4 Transcription FactorIL23R protein, humanAlelosAutoinmunidadGenotipoPolimorfismo genéticoPolimorfismo de nucleótido simpleReceptores de interleucinaFactores de transcripciónUveítisMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::AllelesMedical Subject Headings::Phenomena and Processes::Immune System Phenomena::Immunity::AutoimmunityMedical Subject Headings::Check Tags::FemaleMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::GenotypeMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Check Tags::MaleMedical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle AgedMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, GeneticMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single NucleotideMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Receptors, Cell Surface::Receptors, Immunologic::Receptors, Cytokine::Receptors, InterleukinMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Adaptor Proteins, Signal Transducing::STAT Transcription FactorsMedical Subject Headings::Diseases::Eye Diseases::Uveal Diseases::UveitisMedical Subject Headings::Named Groups::Persons::Age Groups::AdultNo evidence of association between common autoimmunity STAT4 and IL23R risk polymorphisms and non-anterior uveitis.research article24312163open access10.1371/journal.pone.00728921932-6203PMC3843656