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V. Menezo, S. Bond, G.A. Wilson, S. Lightman; Influence of Cytokine Gene Polymorphisms on Clinical Outcome in Recurrent Anterior Uveitis . Invest. Ophthalmol. Vis. Sci. 2003;44(13):4600.
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Purpose: Acute anterior uveitis is the commonest form of intraocular inflammation. Some patients have severe disease and lose of vision whereas others have recurrent episodes but retain good visual acuity. Inter-individual differences in other immune-mediated diseases have been shown to be due to allelic polymorphism within regulatory regions of cytokine genes. The aim of this study is to identify key cytokine polymorphisms in recurrent acute anterior uveitis to see if such associations could be determined. Methods: 151 patients with recurrent anterior uveitis (RAU) were phenotyped and divided into idiopathic RAU, RAU associated with systemic disease and RAU with and without complications (posterior synaechiae, cataract and cystoid macular oedema). Genomic DNA from citrated whole peripheral blood was extracted using QIAamp Maxikit. All patients were typed for HLA B27. The presence of four biallelic cytokine polymorphisms IL 1ra (-2018) (T/C), IL6 (-174) (C/G), IL 10 (1082) (C/T) and TNF alpha -308 (C/T) were identified using TaqMan PCR. Comparisons of allele and genotype frequencies in these polymorphims were compared to the clinical phenotype using the chi-square contingency table. Results: Hardy-Weinberg analysis of the genotype data indicated that the allele frequencies determined were in the expected equilibrium. The frequency of the IL1ra (-2018) T allele was increased in patients with RAU and systemic disease (23% vs 35%) and was associated with posterior synaechiae development (69.5% vs 87.5%). No other associations were identified. Conclusion: This preliminary study identified that the IL1ra (-2018) (C/T) polymorphism may play an influential role in identifying patients at risk of developing complications or with associated systemic disease.
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