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泛素结合和 SH3 域蛋白 3B(UBASH3B)基因与伊朗人群白塞病的相关性。

Ubiquitin Associated and SH3 Domain Containing B (UBASH3B) Gene Association with Behcet's Disease in Iranian Population.

机构信息

a Center of Excellence for Biodiversity, Faculty of Natural Sciences , University of Tabriz , Tabriz , Iran.

b Ocular Tissue Engineering Research Center, Ophthalmic Research Center , Shahid Beheshty University of Medical Sciences , Tehran , Iran.

出版信息

Curr Eye Res. 2019 Feb;44(2):200-205. doi: 10.1080/02713683.2018.1524913. Epub 2018 Oct 22.

Abstract

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.

摘要

目的

评估 UBASH3B 基因 rs4936742(T>C)多态性与贝赫切特病(BD)和 BD 后葡萄膜炎的可能关联。

材料和方法

选择 131 名 BD 患者(51 名贝赫切特后葡萄膜炎和 80 名非眼部 BD 患者)和 61 名无炎症性疾病的年龄匹配的健康个体作为对照组。所有 BD 病例均在葡萄膜炎或风湿病诊所接受了至少 5 年的随访和治疗。对所有研究对象(包括对照个体)进行全面的风湿病评估。所有患者和对照者均通过 PCR-RFLP 技术对 UBASH3B rs4936742(T>C)多态性进行基因分型。

结果

患者和对照组之间观察到的基因型频率有显著差异(19.7%对 TT,OR=2.9,P=0.011 和 36.1%对 CT,OR=2.38,P=0.017)。贝赫切特病患者的 T 等位基因频率显著升高(OR=1.9,P=0.004)。亚组基因和等位基因分析显示,贝赫切特后葡萄膜炎组与对照组之间、贝赫切特后葡萄膜炎组与非眼部 BD 组之间均无显著差异。然而,非眼部 BD 组与对照组之间的基因和等位基因分析显示存在统计学显著差异(36.3%对 TT,OR=4.08,P=0.003 和 43.8%对 CT,OR=2.68,P=0.018,58.1%对 T 等位基因,OR=2.29,P=0.001)。携带 UBASH3B TT 基因型的个体发生非眼部 BD 的可能性是未受影响的对照组个体的 4 倍。

结论

我们的结果表明,UBASH3B 基因 rs4936742(T>C)多态性与伊朗人群中贝赫切特病的发生风险增加相关,尤其是非眼部 BD。我们没有发现该遗传位点在后葡萄膜炎中对贝赫切特病的易感性作用。

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