PLoS ONE (Jan 2013)

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

  • María Carmen Cénit,
  • Ana Márquez,
  • Miguel Cordero-Coma,
  • Marina Begoña Gorroño-Echebarría,
  • Alejandro Fonollosa,
  • Alfredo Adán,
  • Agustín Martínez-Berriotxoa,
  • David Díaz Valle,
  • Esperanza Pato,
  • Ricardo Blanco,
  • Joaquín Cañal,
  • Manuel Díaz-Llopis,
  • José Luis García Serrano,
  • Enrique de Ramón,
  • María José Del Rio,
  • José Manuel Martín-Villa,
  • Blanca Molins,
  • Norberto Ortego-Centeno,
  • Javier Martín

DOI
https://doi.org/10.1371/journal.pone.0072892
Journal volume & issue
Vol. 8, no. 11
p. e72892

Abstract

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ObjectiveSTAT4 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.MethodsFour 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.ResultsNo 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).ConclusionOur 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.