title: Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition.
abstract: BACKGROUND
  Recently, different genetic variants located within the IL2/IL21 genetic region as well as within both IL2RA and IL2RB loci have been associated to multiple autoimmune disorders. We aimed to investigate for the first time the potential influence of the IL2/IL21, IL2RA and IL2RB most associated polymorphisms with autoimmunity on the endogenous non-anterior uveitis genetic predisposition.
  
  
  METHODS
  A total of 196 patients with endogenous non-anterior uveitis and 760 healthy controls, all of them from Caucasian population, were included in the current study. The IL2/IL21 (rs2069762, rs6822844 and rs907715), IL2RA (2104286, rs11594656 and rs12722495) and IL2RB (rs743777) genetic variants were genotyped using TaqMan® allelic discrimination assays.
  
  
  RESULTS
  A statistically significant difference was found for the rs6822844 (IL2/IL21 region) minor allele frequency in the group of uveitis patients compared with controls (P(-value)=0.02, OR=0.64 CI 95%=0.43-0.94) although the significance was lost after multiple testing correction. Furthermore, no evidence of association with uveitis was detected for the analyzed genetic variants of the IL2RA or IL2RB loci.
  
  
  CONCLUSIONS
  Our results indicate that analyzed IL2/IL21, IL2RA and IL2RB polymorphisms do not seem to play a significant role on the non-anterior uveitis genetic predisposition although further studies are needed in order to clear up the influence of these loci on the non-anterior uveitis susceptibility.
authors.affiliation: Instituto de Parasitología y Biomedicina López-Neyra, IPBLN, CSIC, Parque Tecnológico Ciencias de la Salud, Avenida del Conocimiento, 18100 Armilla, Granada, Spain. mccenit@ipb.csic.es
authors.forename: María Carmen
authors.initials: MC
authors.lastname: Cénit
authors.forename: Ana
authors.initials: A
authors.lastname: Márquez
authors.forename: Miguel
authors.initials: M
authors.lastname: Cordero-Coma
authors.forename: Alejandro
authors.initials: A
authors.lastname: Fonollosa
authors.forename: Alfredo
authors.initials: A
authors.lastname: Adán
authors.forename: Agustín
authors.initials: A
authors.lastname: Martínez-Berriotxoa
authors.forename: Victor
authors.initials: V
authors.lastname: Llorenç
authors.forename: David
authors.initials: D
authors.lastname: Díaz Valle
authors.forename: Ricardo
authors.initials: R
authors.lastname: Blanco
authors.forename: Joaquín
authors.initials: J
authors.lastname: Cañal
authors.forename: Manuel
authors.initials: M
authors.lastname: Díaz-Llopis
authors.forename: José Luis
authors.initials: JL
authors.lastname: García Serrano
authors.forename: Enrique
authors.initials: E
authors.lastname: de Ramón
authors.forename: María José
authors.initials: MJ
authors.lastname: del Rio
authors.forename: Marina
authors.initials: M
authors.lastname: Begoña Gorroño-Echebarría
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Martín-Villa
authors.forename: Norberto
authors.initials: N
authors.lastname: Ortego-Centeno
authors.forename: Javier
authors.initials: J
authors.lastname: Martín
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007376:Interleukin-2 / Q000235:genetics*; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics*; D053646:Interleukin-2 Receptor beta Subunit / Q000235:genetics*; D007378:Interleukins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015233:Models, Statistical; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D014605:Uveitis / Q000235:genetics*; D000098546:Interleukin-21
chemical_list: D007376:Interleukin-2; D053645:Interleukin-2 Receptor alpha Subunit; D053646:Interleukin-2 Receptor beta Subunit; D007378:Interleukins; D000098546:Interleukin-21