No evidence of association between common autoimmunity STAT4 and IL23R risk polymorphisms and non-anterior uveitis

• Published in: PloS one Vol. 8; no. 11; p. e72892
• Main Authors: Cénit, María Carmen, Márquez, Ana, Cordero-Coma, Miguel, Gorroño-Echebarría, Marina Begoña, Fonollosa, Alejandro, Adán, Alfredo, Martínez-Berriotxoa, Agustín, Díaz Valle, David, Pato, Esperanza, Blanco, Ricardo, Cañal, Joaquín, Díaz-Llopis, Manuel, García Serrano, José Luis, de Ramón, Enrique, Del Rio, María José, Martín-Villa, José Manuel, Molins, Blanca, Ortego-Centeno, Norberto, Martín, Javier
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 29.11.2013; Public Library of Science (PLoS)
• Subjects: Adult; Alleles; Arthritis; Autoimmune diseases; Autoimmunity - genetics; Cytokines; Disease; Ethics; Female; Gene Frequency; Genetic factors; Genetic Predisposition to Disease; Genomes; Genotype; Hospitals; Humans; Immune system; Inflammation; Internal medicine; Lupus; Male; Medicine; Middle Aged; Patients; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Receptors, Interleukin - genetics; Rheumatology; Stat4 protein; STAT4 Transcription Factor - genetics; Statistical analysis; Studies; Uveitis; Uveitis - diagnosis; Uveitis - genetics; Uveitis - immunology
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0072892

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. 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. 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). 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.