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GSTM1 and GSTT1 deletion genotypes in various spontaneous optic neuropathies in Arabs.

机译:阿拉伯人各种自发性视神经病变中的GSTM1和GSTT1缺失基因型。

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AIM: To investigate whether the prevalence GSTT1 and GSTM1 deletion genotypes (T0M1, T1M0 and T0M0) are increased in certain spontaneous optic neuropathies. METHODS: We compared the prevalence of GSTT1 and GSTM1 deletion genotypes in 108 Arab patients with optic neuritis (ON, 26 patients), LHON-like optic neuropathy (LLON, 35 patients), sporadic bilateral optic neuropathy in children (SBON, 21 patients) and non-arteritic ischaemic optic neuropathy (NAION, 26 patients) to 120 ethnicity-matched controls. Genotypes were determined by multiplex polymerase chain reaction. RESULTS: All three GST deletion genotypes were significantly more prevalent in the entire optic neuropathy group than in controls. When patients were stratified by optic neuropathy type, the prevalence of at least one deletion genotype was significantly increased in each type of optic neuropathy. CONCLUSIONS: These results imply that GST malfunction in the setting of GST deletion genotypes may interfere with metabolism of oxidative intermediates and may exacerbate direct or indirect pathological effects of oxidative stress on the optic nerve in the setting of these spontaneous optic neuropathies. It is possible that these GST polymorphisms are risk factors for the types of optic neuropathies investigated here.
机译:目的:研究在某些自发性视神经病变中,GSTT1和GSTM1缺失基因型(T0M1,T1M0和T0M0)的患病率是否增加。方法:我们比较了108例阿拉伯视神经炎患者(ON,26例),LHON样视神经病变(LLON,35例),儿童偶发性双侧视神经病变(SBON,21例)中GSTT1和GSTM1缺失基因型的患病率和非动脉缺血性视神经病变(NAION,26例患者)至120个种族匹配的对照组。通过多重聚合酶链反应确定基因型。结果:在整个视神经病变组中,所有三种GST缺失基因型的患病率均明显高于对照组。当按视神经病变类型对患者进行分层时,每种视神经病变类型中至少一种缺失基因型的患病率显着增加。结论:这些结果表明,在自发性视神经病变的情况下,GST缺失基因型环境中的GST功能异常可能会干扰氧化中间体的代谢,并可能加剧氧化应激对视神经的直接或间接病理影响。这些GST多态性可能是此处研究的视神经病变类型的危险因素。

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