A suggestive association of fuchs heterochromic cyclitis with cytotoxic T cell antigen 4 gene polymorphism.
ABSTRACT Fuchs heterochromic cyclitis (FHC) is a chronic inflammatory eye disease, usually presenting as unilateral anterior uveitis. Up to date no disease susceptibility genes have been described for FHC.
The allele frequency of HLA DRB1 and DQB1, polymorphisms of the tumour necrosis factor (TNF) alpha promoter region (-376, -308, -238), the promoter (-318), first exon (+49) and (AT)n repeat polymorphism of the cytotoxic T cell antigen 4 (CTLA4) gene were analysed in 44 FHC patients and 139 healthy controls.
The CTLA4 -318 C/T genotype was increased in FHC patients [odds ratio (OR) 3.0, 95% confidence interval (CI) 1.4-6.5], as well as long CTLA4 (AT)n microsatellite alleles with more than 16 AT repeats (OR 2.6, 95% CI 1.3-5.3). A trend towards the -308 G/A TNF-alpha genotype was found in the patient cohort, whereas no difference in HLA class II allele distribution was observed. Conclusion:CTLA4 but not TNF-alpha or HLA class II DRB1 and DQB1 may represent a candidate gene for disease susceptibility in FHC.
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ABSTRACT: The aim of this study was to investigate the potential association of microRNA-146a (miR-146a) and V-Ets oncogene homolog 1 (Ets-1) gene polymorphisms with Fuchs Uveitis syndrome (FUS). Three single-nucleotide polymorphisms (SNPs), miR-146a/rs2910164, ets-1/rs1128334, and ets-1/rs10893872 were genotyped in 219 Han Chinese patients with FUS and 612 healthy controls using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Genotype counts were analyzed by the χ² test. No significant difference concerning the genotypic and allelic frequencies of rs2910164, rs1128334, and rs10893872 polymorphisms could be found between patients with FUS and the normal controls. Analysis according to gender did not show any influence of sex on the association of miR-146a and Ets-1 with FUS. Our results suggest that the investigated three SNPs, miR-146a/rs2910164, ets-1/rs1128334, and ets-1/rs10893872, are not associated with FUS in the Han Chinese population.Molecular vision 01/2012; 18:426-30. · 1.99 Impact Factor
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ABSTRACT: The purpose of this article is to report the development of Fuchs' heterochromic cyclitis (FHC) secondary to toxoplasmosis chorioretinitis. The design is based on observational case series report. We report in this article six cases of typical FHC developing secondary to ocular toxoplasmosis. Intraocular immunoglobulin G production against Toxoplasma gondii was determined in the aqueous humor of five patients by calculation of the Goldmann-Witmer coefficient (GWC). The clinical examination revealed typical FHC with no active chorioretinal scar. We report on five women and one man (aged 33-64 years old; median 44.6 years) who developed FHC over a period of time ranging from 2-13 years. A positive GWC (>3) was found in four patients; of the two remaining patients one was negative and the other did not have anterior chamber paracentesis. Four patients were treated for an active ocular toxoplasmic lesion before the development of FHC with pyrimethamine, sulfadiazine and corticosteroids. Two patients had negative anti-toxoplasmic therapy for FHC (one with trimethoprim-sulfamethoxazole for 3 weeks and the other with pyrimethamine, sulfadiazine and corticosteroids for 8 weeks). One never had any treatment. All the patients had mild anterior chamber reaction with no synechia, diffuse and characteristic white stellate keratic precipitates and vitritis; five patients had posterior subcapsular cataract and heterochromia and three had elevated intraocular pressure. The findings help us to conclude that FHC can develop over a period of time after ocular toxoplasmosis. This could be a main association to search for when a Fuchs' uveitis is found with a chorioretinal scar. Ocular inflammation does not mean reactivation of ocular toxoplasmosis. FHC could be a secondary immune reaction with a past antigenic stimulation to a previous infection, i.e., toxoplasmosis, etc.International Ophthalmology 10/2012;
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ABSTRACT: ABSTRACT Purpose: This study was performed to evaluate the potential association of the tumor necrosis factor alpha inducible protein 3gene (TNFAIP3) polymorphisms with Fuchs' heterochromic iridocyclitis (Fuchs' Syndrome) in a Chinese Han population. Methods: Five single-nucleotide polymorphisms (SNPs), rs10499194, rs610604, rs7753873, rs5029928 and rs9494885 of TNFAIP3 were genotyped in 225 Fuchs' syndrome patients and 651 healthy controls using a PCR-restriction fragment length polymorphism assay. All control subjects were matched ethnically and geographically with the patients. Genotype counts in patients and controls were analyzed by the χ2 test. Results: All genotypic and allelic frequencies of the tested TNFAIP3 polymorphisms were in Hardy-Weinberg equilibrium. The genotypic and allelic frequencies of rs10499194, rs610604, rs7753873, rs5029928 and rs9494885 of TNFAIP3 were not different between patients with Fuchs' syndrome and controls. Conclusions: Our results suggest that rs10499194, rs610604, rs7753873, rs5029928 and rs9494885 of TNFAIP3 are not associated with Fuchs' syndrome in a Chinese Han population.Ophthalmic Genetics 03/2013; · 1.07 Impact Factor