PURPOSE: To evaluate the possible association of UBASH3B gene rs4936742 (T > C) polymorphism with Behcet's disease (BD) and posterior uveitis in BD. MATERIALS AND METHODS: One hundred and thirty-one patients with BD (51 Behcet's posterior uveitis and 80 non-ocular Behcet's patients) and 61 unrelated age-matched healthy individuals as a control group without any inflammatory disease were selected. All BD cases were under follow-up and treatment in uveitis or rheumatology clinics for at least 5 years. All research subjects, including control individuals, received a comprehensive rheumatologic evaluation. All patients and controls were genotyped for UBASH3B rs4936742 (T > C) polymorphism by PCR-RFLP technique. RESULTS: The observed frequencies of genotypes were significantly different among patients and controls (19.7% versus 30.5% for TT, OR = 2.9, P = 0.011 and 36.1% versus 45.8% for CT, OR = 2.38, P = 0.017). Frequencies of T allele showed significantly higher values in Behcet's patients (OR = 1.9, P = 0.004). Subgroup genotypic and allelic analyses disclosed no significant difference between Behcet's posterior uveitis and control groups, neither between Behcet's posterior uveitis and non-ocular BD groups. However, genotypic and allelic analyses between non-ocular BD and control groups revealed statistically significant difference (36.3% versus 19.7% for TT, OR = 4.08, P = 0.003 and 43.8% versus 36.1% for CT, OR = 2.68, P = 0.018, 58.1% versus 37.7% for T allele, OR = 2.29, P = 0.001). Individuals carrying the TT genotype for UBASH3B were four times more likely to develop non-ocular BD than unaffected, control individuals. CONCLUSION: Our results showed that the UBASH3B gene rs4936742 (T > C) polymorphism is associated with an increased risk of Behcet's disease, especially non-ocular BD, in Iranian population. We could not find any susceptibility role of this genetic locus for posterior uveitis in Behcet's disease.
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