The -874 Polymorphism in the Interferon-Gamma Gene Associates With Disease but Not Outcome in Patients With Idiopathic Retinal Vasculitis

Abstract

Abstract: : Purpose: Polymorphism in the gene for the pro-inflammatory cytokine, interferon gamma (IFNγ) has been associated with altered transcriptional activity. We studied the distribution of the –874 (T or A) polymorphism in patients with idiopathic retinal vasculitis to determine whether this polymorphism was a susceptibility factor for disease or outcome. Methods: DNA was taken from 122 patients with idiopathic retinal vasculitis and 100 age and race matched controls. Disease type was defined following clinical examination and laboratory testing to rule out other associated systemic diseases. Outcome was defined as bad if each eye was <20/40 in a quiet eye after 5 years follow-up (n=94). Polymorphisms in the IFNγ gene (A or T at position –874) were detected using SSP-PCR Results: Analysis showed a greater prevalence of the –874T allele in patients (54% vs.46% in controls. Chi-squared 7.5 ; p=0.006). Although there was a trend towards the T allele being more prevalent in patients with a bad disease outcome (55% vs 45% p=0.6) this did not reach significance. Conclusions: The –874 T allele of the IFNγ gene which has been associated with higher transcriptional activity was more prevalent in patients than controls. Thus far no significant association with disease outcome has been identified.

Keywords: genetics • immunomodulation/immunoregulation • uveitis-clinical/animal model