title: Influence of IL2RA rs2104286 polymorphism in the risk of biopsy-proven giant cell arteritis.
abstract: OBJECTIVE
  To assess the influence of the IL2RA rs2104286 A>G polymorphism on susceptibility to and clinical spectrum of manifestations of biopsy-proven giant cell arteritis (GCA).
  
  
  METHODS
  Our study included 318 patients with biopsy-proven GCA. DNA from patients and healthy controls was obtained from peripheral blood. Samples were genotyped for the IL2RA rs2104286 A>G polymorphism using a predesigned TaqMan allele discrimination assay and by PCR amplification.
  
  
  RESULTS
  Although GCA patients showed a higher frequency of the minor allele homozygote of IL2RA rs2104286 (GG) compared to controls (5.1% vs 2.8%, respectively; p = 0.06, odds ratio 1.84, 95% confidence interval 0.91-3.70), the allele distribution showed no significant differences between GCA patients and controls. Stratification of GCA patients according to sex or polymyalgia rheumatica, jaw claudication, visual ischemic manifestations, or other severe ischemic complications did not yield significant differences in the allele or genotype frequencies of the IL2RA rs2104286 polymorphism.
  
  
  CONCLUSIONS
  IL2RA rs2104286 polymorphism does not appear to be a genetic risk factor for susceptibility to biopsy-proven GCA. Also, this polymorphism does not seem to be implicated in the clinical expression of this vasculitis.
authors.affiliation: Instituto de Parasitología y Biomedicina López-Neyra, C.S.I.C., Granada, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: Rodríguez-Rodríguez
authors.forename: Santos
authors.initials: S
authors.lastname: Castañeda
authors.forename: Tomás R
authors.initials: TR
authors.lastname: Vázquez-Rodríguez
authors.forename: Inmaculada C
authors.initials: IC
authors.lastname: Morado
authors.forename: Beatriz
authors.initials: B
authors.lastname: Marí-Alfonso
authors.forename: Carmen
authors.initials: C
authors.lastname: Gómez-Vaquero
authors.forename: José A
authors.initials: JA
authors.lastname: Miranda-Filloy
authors.forename: Norberto
authors.initials: N
authors.lastname: Ortego-Centeno
authors.forename: Javier
authors.initials: J
authors.lastname: Narvaez
authors.forename: Ricardo
authors.initials: R
authors.lastname: Blanco
authors.forename: Benjamín
authors.initials: B
authors.lastname: Fernández-Gutiérrez
authors.forename: Javier
authors.initials: J
authors.lastname: Martín
authors.forename: Miguel A
authors.initials: MA
authors.lastname: González-Gay
mesh_terms: D000483:Alleles; D016009:Chi-Square Distribution; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D013700:Giant Cell Arteritis / Q000235:genetics*; D006801:Humans; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics*; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012306:Risk
chemical_list: C508017:IL2RA protein, human; D053645:Interleukin-2 Receptor alpha Subunit