Associations of Independent IL2RA Gene Variants with Intermediate Uveitis

PLoS One. 2015 Jul 2;10(7):e0130737. doi: 10.1371/journal.pone.0130737. eCollection 2015.

Abstract

Purpose: 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.

Materials and 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.

MeSH terms

  • Adult
  • Alleles
  • Case-Control Studies
  • Female
  • Gene Expression
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • HLA-B27 Antigen / genetics*
  • HLA-B27 Antigen / metabolism
  • Humans
  • Interleukin-2 Receptor alpha Subunit / genetics*
  • Interleukin-2 Receptor alpha Subunit / metabolism
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Uveitis, Anterior / diagnosis
  • Uveitis, Anterior / genetics*
  • Uveitis, Anterior / pathology
  • Uveitis, Intermediate / diagnosis
  • Uveitis, Intermediate / genetics*
  • Uveitis, Intermediate / pathology

Substances

  • HLA-B27 Antigen
  • IL2RA protein, human
  • Interleukin-2 Receptor alpha Subunit

Grants and funding

The authors have no support or funding to report.