埃及多发性硬化症患者维生素d和维生素d受体基因变异:一项病例对照研究

Doaa Sultan, I. Mandour, K. Geba, A. Khallaf, N. Radwan
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目的:多发性硬化症(MS)是一种病因有争议的自身免疫性疾病。遗传和环境因素都被认为与患这种疾病的风险有关。本研究的目的是评估维生素D受体(VDR) BsmI变异与多发性硬化症的关系,并研究这种变异与维生素D水平的相互作用。方法:本研究共招募100名受试者。50例患者被诊断为多发性硬化症,50例为健康人。采用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)对两组患者的BsmI进行基因分型,并采用高效液相色谱(HPLC)检测MS患者血清25-羟基维生素D [25(OH)D]水平。结果:BsmI VDR多态性基因型分布在MS患者和健康对照组之间无显著差异。BsmI的G等位基因在MS患者中的比例有统计学意义(p - 0.045)。MS患者与对照组25(OH)D水平差异无统计学意义。结论:研究结果提示VDR基因变异BsmI G等位基因可能增加MS发生的风险。
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VITAMIN D AND VITAMIN D RECEPTOR GENE VARIANT IN EGYPTIAN MULTIPLE SCLEROSIS PATIENTS: A CASE-CONTROL STUDY
: Aim: Multiple sclerosis (MS) is an autoimmune disease with a controversial etiology. Both genetic and environmental factors are thought to be involved in the risk of developing the disease. The purpose of this study was to assess the association of the Vitamin D receptor (VDR) BsmI variant with MS and to investigate the interaction of this variant with vitamin D levels. Method: 100 subjects were recruited for this study. Fifty patients were diagnosed with MS and 50 were healthy individuals. BsmI was genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analyses in both groups and serum 25-hydroxyvitamin D [25(OH)D] levels were determined in MS patients by high-performance liquid chromatography (HPLC). Results: The distribution of the genotype of VDR polymorphism BsmI did not differ significantly between MS patients and healthy controls . The G allele of BsmI was a statistically significant higher percentage in MS patients ( p -value 0.045). There is no statistically significant difference in the level of 25(OH)D between MS patients and the control group. Conclusions: The study findings suggest that the VDR gene variant BsmI G allele may increase the risk of the development of MS.
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