IL2RA Gene Polymorphism rs2104286 A>G Seen in Multiple Sclerosis Is Associated with Intermediate Uveitis: Possible Parallel Pathways?

PURPOSE. Uveitis is a major cause for visual impairment. Inflammation-related gene polymorphisms have previously been shown to confer susceptibility to different types of uveitis. Recently, IL-2 receptor alpha (IL2RA, also called CD25) and IL-7 receptor alpha (IL7RA) gene variants (rs2104286, rs12722489, and rs6897932) have been identified to play an essential role in the pathogenesis of immune-mediated diseases. Their role in uveitis, however, has not yet been studied. The present study was set to investigate a hypothesized association of these gene polymorphisms and the presence of either intermediate or HLA-B27-associated acute anterior uveitis. METHODS. One hundred forty-five patients with HLA-B27-associated acute anterior uveitis (AAU), 84 patients with intermediate uveitis, 132 HLA-B27-negative controls, and 61 HLA-B27-positive controls were enrolled. Determination of genotypes was done by polymerase chain reaction. RESULTS. The frequency of carriers of the minor allele for rs2104286 was significantly lower in patients with intermediate uveitis compared with HLA-B27 positive and negative controls combined (P = 0.006). Frequencies of the minor allele for rs2104286 did not differ significantly in patients with HLA-B27-associated uveitis (28.3%) when compared with HLA-B27-negative controls (24.2%; P = 0.29) and HLA-B27-positive controls (30.3%; P = 0.72). The rs12722489 and rs6897932 polymorphisms were not significantly associated with either investigated uveitis entity (P > 0.005). CONCLUSIONS. These findings suggest an association of the rs2104286 polymorphism with intermediate uveitis, but not with HLA-B27-associated acute anterior uveitis. Because this polymorphism was associated with multiple sclerosis in previous studies, the authors suggest possible parallel pathways between multiple sclerosis and intermediate uveitis but not HLA-B27-associated uveitis. (Invest Ophthalmol Vis Sci. 2011;52:8295-8299) DOI: 10.1167/iovs.11-8163