title: Associations of Independent IL2RA Gene Variants with Intermediate Uveitis.
abstract: OBJECTIVE
  The genetic background for the concomitance of uveitis and other autoimmune diseases remains elusive. Here the role of two IL2RA gene variants (rs11594656 and rs12722495) was investigated in intermediate uveitis and HLAB27 acute anterior uveitis.
  
  
  METHODS
  One hundred fifty-nine patients with HLAB27 acute anterior uveitis, 85 patients with intermediate uveitis, 138 HLAB27 negative controls and 100 HLAB27 positive controls were recruited for this case-control study. Main outcome measures were genotype distribution and allelic frequencies determined by polymerase chain reaction.
  
  
  RESULTS
  The frequencies of carriers of the minor allele at rs11594656 and rs12722495 were significantly different in patients with intermediate uveitis compared to HLAB27 positive and negative controls combined (p<0.05). For rs12722495 the minor G allele was protective (genotypic OR: 0.29 [0.12-0.69]), and for rs11594656 the minor A allele conferred risk (genotypic OR: 1.59 [1.09-2.32]). No significant differences in genotype distribution were found between patients with HLAB27 acute anterior uveitis and HLAB27 positive or negative control subjects.
  
  
  CONCLUSIONS
  We found rs11594656 and rs12722495 to be associated with intermediate uveitis but not with HLAB27 acute anterior uveitis. The genetic heterogeneity found at the IL2RA locus could help explain patterns of concomitance with other autoimmune diseases.
authors.affiliation: Department of Ophthalmology, Medical University Graz, Graz, Austria.
authors.forename: Ewald
authors.initials: E
authors.lastname: Lindner
authors.affiliation: Department of Ophthalmology, Medical University Graz, Graz, Austria.
authors.forename: Martin
authors.initials: M
authors.lastname: Weger
authors.affiliation: Department of Ophthalmology, Medical University Graz, Graz, Austria.
authors.forename: Navid
authors.initials: N
authors.lastname: Ardjomand
authors.affiliation: Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University Graz, Graz, Austria.
authors.forename: Wilfried
authors.initials: W
authors.lastname: Renner
authors.affiliation: Department of Ophthalmology, Klinikum Klagenfurt, Klagenfurt, Austria.
authors.forename: Yosuf
authors.initials: Y
authors.lastname: El-Shabrawi
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D015796:HLA-B27 Antigen / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014606:Uveitis, Anterior / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D015867:Uveitis, Intermediate / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D015796:HLA-B27 Antigen; C508017:IL2RA protein, human; D053645:Interleukin-2 Receptor alpha Subunit