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Background Large-scale genetic studies have reported several loci associated with specific disorders involving uveitis. Our aim was to identify genetic risk factors that might predispose to uveitis per se, independent of the clinical diagnosis, by performing a dense genotyping of immune-related loci. Methods 613 cases and 3693 unaffected controls from three European case/control sets were genotyped using the Immunochip array. Only patients with noninfectious non-anterior uveitis and without systemic features were selected. To perform a more comprehensive analysis of the human leucocyte antigen (HLA) region, SNPs, classical alleles and polymorphic amino acid variants were obtained via imputation. A meta-analysis combining the three case/control sets was conducted by the inverse variance method. Results The highest peak belonged to the HLA region.

Objective In a large series of Caucasian patients with refractory uveitis due to Behçet disease (BD) treated with infliximab (IFX) we assessed: a) long-term efficacy and safety and b) IFX optimization when ocular remission was achieved. Methods Multicenter study of IFX-treated patients with BD uveitis refractory to conventional immunosuppressant agents.103 patients/185 affected eyes were treated with IFX as first biologic therapy as follows: 3-5 mg/kg i.v. at 0, 2, 6 and then every 4-8 weeks. a) The main outcome variables were analyzed at baseline, 1st week, 1st and 6th months and 1st and 2nd years of IFX therapy. b) After remission, based on a shared decision between patient and clinician, IFX optimization was performed. Efficacy, safety, and cost of IFX therapy were evaluated. Results In whole series (n=103), main outcome variables showed a rapid and maintained improvement, reaching remission in 78 patients after a mean IFX duration of 31.5 months. Serious adverse events were observed in 9 patients: infusional reactions (n=4), tuberculosis (n=1), Mycobacterium avium pneumonia (n=1), severe oral ulcers (n=1), palmoplantar psoriasis (n=1) and colon carcinoma (n=1). In the optimization subanalysis, the comparative study between optimized and nonoptimized groups showed: a) no differences in clinical characteristics at baseline; b) similar maintained improvement in most ocular outcomes; and c) lower severe adverse events, and d) lower mean IFX costs in optimized group (4,826.52 vs. 9,854.13 euros/patient/year). Conclusion IFX seems to be effective and relatively safe in Caucasian patients with refractory BD uveitis. IFX optimization is effective, safe, and cost-effective.

BackgroundRecently, different genetic variants located within the IL2/IL21 genetic region as well as within both IL2RA and IL2RB loci have been associated to multiple autoimmune disorders. We aimed to investigate for the first time the potential influence of the IL2/IL21, IL2RA and IL2RB most associated polymorphisms with autoimmunity on the endogenous non-anterior uveitis genetic predisposition.MethodsA total of 196 patients with endogenous non-anterior uveitis and 760 healthy controls, all of them from Caucasian population, were included in the current study. The IL2/IL21 (rs2069762, rs6822844 and rs907715), IL2RA (2104286, rs11594656 and rs12722495) and IL2RB (rs743777) genetic variants were genotyped using TaqMan® allelic discrimination assays.ResultsA statistically significant difference was found for the rs6822844 (IL2/IL21 region) minor allele frequency in the group of uveitis patients compared with controls (P-value=0.02, OR=0.64 CI 95%=0.43-0.94) although the significance was lost after multiple testing correction. Furthermore, no evidence of association with uveitis was detected for the analyzed genetic variants of the IL2RA or IL2RB loci.ConclusionOur results indicate that analyzed IL2/IL21, IL2RA and IL2RB polymorphisms do not seem to play a significant role on the non-anterior uveitis genetic predisposition although further studies are needed in order to clear up the influence of these loci on the non-anterior uveitis susceptibility.