Abstract
PurposeThe 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 MethodsOne 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.ResultsThe 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.ConclusionsWe 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.
Highlights
The interleukin 2 receptor alpha (IL2RA) gene is a risk locus shared between various autoimmune diseases[1,2,3]
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
Summary
The interleukin 2 receptor alpha (IL2RA) gene is a risk locus shared between various autoimmune diseases[1,2,3]. We have previously demonstrated an association of intermediate uveitis (IU) with rs2104286, a gene variant of IL2RA[4]. Since rs2104286 is strongly associated with multiple sclerosis (MS)[1], we suggested parallel pathogenic pathways between MS and IU. The rs2104286 gene variant is as well associated with other autoimmune diseases such as type 1 diabetes (T1D), but interestingly other single nucleotide polymorphisms (SNPs) associated with T1D show no association with MS suggesting allelic heterogeneity[5]. Intermediate Uveitis (IU) and Multiple Sclerosis (MS) are apparently related diseases. IU might have pathogenic pathways that are either distinct or shared with other autoimmune diseases. Genetic findings, which highlight the role of IL2RA in IU(4), suggest to re-evaluate the role of daclizumab in terms of personalized therapy
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