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N. Modi, L. A. Bye, E. Kondeatis, R. W. Vaughan, G. R. Wallace, M. R. Stanford; +49 A/G and -318 C/T Polymorphisms in the CTLA-4 Gene Do Not Associate With Idiopathic Retinal Vasculitis or Its Outcome at Five Years. Invest. Ophthalmol. Vis. Sci. 2007;48(13):4625.
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Differences in CTLA-4 gene expression and function may influence the eventual outcome of idiopathic retinal vasculitis. Single nucleotide polymorphisms within the coding sequence or promoter region may play a role in T-cell activation and thus influence the incidence and severity of ocular autoimmune disorders. We hypothesized that such polymorphisms may relate to visual outcome in patients with retinal vasculitis.
DNA was obtained from 147 patients with retinal vasculitis and analysed for the +49 A/G (exon) and -318 C/T promoter polymorphisms of the CTLA-4 gene. The presence of polymorphisms was identified using PCR with sequence specific primers. Associations with disease were calculated by both allelic frequency and haplotype analysis. Associations between polymorphisms and ocular disease outcome were identified. A bad outcome was defined as loss of vision < 6/12 Snellen in both eyes at 5 years from presentation when the eyes were quiet.
Haplotype analysis of the CTLA-4 +49 A/G and -318 C/T polymorphisms did not show any significant difference between patients with retinal vasculitis and healthy controls (p>0.1). The allelic frequency did not differ between patients and controls (p>0.1). There was no significant association between distribution of polymorphisms and visual outcome (p>0.05).
Based on this dataset, there is no evidence of a strong correlation between the +49 A/G and -318 C/T polymorphisms of CTLA-4 and idiopathic retinal vasculitis and the resulting visual outcome.
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