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


Autoria(s): 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
Data(s)

11/09/2015

11/09/2015

2013

Resumo

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.

Journal Article;

Identificador

Cénit 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):e72892

1932-6203 (Online)

PMC3843656

http://hdl.handle.net/10668/1987

24312163

10.1371/journal.pone.0072892

Idioma(s)

en

Publicador

Public Library of Science

Relação

PloS ONE

http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0072892

Direitos

Acceso abierto

Palavras-Chave #Receptors, Interleukin #STAT4 Transcription Factor #IL23R protein, human #Alelos #Autoinmunidad #Genotipo #Polimorfismo genético #Polimorfismo de nucleótido simple #Receptores de interleucina #Factores de transcripción #Uveítis #Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles #Medical Subject Headings::Phenomena and Processes::Immune System Phenomena::Immunity::Autoimmunity #Medical Subject Headings::Check Tags::Female #Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype #Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans #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::Genetic Variation::Polymorphism, Genetic #Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide #Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Receptors, Cell Surface::Receptors, Immunologic::Receptors, Cytokine::Receptors, Interleukin #Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intracellular Signaling Peptides and Proteins::Adaptor Proteins, Signal Transducing::STAT Transcription Factors #Medical Subject Headings::Diseases::Eye Diseases::Uveal Diseases::Uveitis #Medical Subject Headings::Named Groups::Persons::Age Groups::Adult
Tipo

info:eu-repo/semantics/article

info:eu-repo/semantics/published

Artículo