Association of Interferon-gamma, Interleukin-10, and Tumor Necrosis Factor-alpha Gene Polymorphisms with Occurrence and Severity of Eales' Disease

PURPOSE. Eales' disease (ED) is an idiopathic retinal vasculitis characterized by capillary nonperfusion and neovascularization. Previous reports on ED demonstrated that T-cell-mediated immunoresponse and differential cytokine production in inflammatory and angiogenic stage seem to influence the extent and severity of this disease. Therefore, the purpose of this study is to investigate the influence of cytokine gene polymorphisms on occurrence and severity of ED. METHODS. One hundred twenty-one patients with ED were recruited from an Eastern Indian population and compared with 223 matched healthy control subjects. Genotyping of IFN-gamma, IL-10, and TNF-alpha were performed by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). RESULTS. A statistically significant association was found between the IL-10 -1082AA (P = 0.002), TNF-alpha -308AA (P = 0.0017) genotypes and the IL-10 ATA haplotype (P = 0.0123) and the occurrence of ED. In addition IL-10 -1082GG (P = 0.0005), TNF-alpha -308GG (P < 0.0001) genotype were found to be protective against disease occurrence. A synergistically low IL-10/high TNF-alpha genotype increased the risk of development (P < 0.0001) and the severity (P = 0.019) of ED. CONCLUSIONS. These data suggest that a low IL-10-expressing and high TNF-alpha -expressing genotype of the host can influence the occurrence and severity of outcome of ED. (Invest Ophthalmol Vis Sci. 2011; 52: 171-178) DOI: 10.1167/iovs.10-5885