Vitamin D receptor gene polymorphism in Egyptian multiple sclerosis patients.

Nermin R Abdelwahab, Randa R Mabrouk, Nahla M Zakaria, Azza Abdel Nasser, Afaf A Mostafa, Nancy S Wahba
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Abstract

One of the most common neurological illnesses in the world is multiple sclerosis (MS), a chronic autoimmune demyelinating disease of the central nervous system (CNS). MS has both a genetic and an environmental origin. In terms of environmental factors, vitamin D deficiency is one of the most important risk factors and closely connected with gene polymorphisms involved in vitamin D metabolism, transport, or activity. Since vitamin D activity requires a receptor-mediated response, any changes to the vitamin D receptor (VDR) may have an effect on the pathophysiology of the disease. In this study, we aimed to identify the relationship between VDR gene polymorphisms, FokI A>G (rs2228570), ApaI A>C (rs7975232) and BsmI C>T (rs1544410) and MS. FokI, ApaI and BsmI genotypes were determined in 50 patients with relapsing remitting MS (RRMS) and in 50 control subjects. DNA was isolated from blood samples, and then FokI, ApaI and BsmI gene polymorphisms were identified using allelic discrimination real time polymerase chain reaction (PCR) assay. The distribution of FokI, ApaI and BsmI polymorphisms did not show any significant differences between MS patients and controls. Thus, we concluded that there is no association between the studied VDR gene polymorphisms and MS.

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埃及多发性硬化症患者的维生素 D 受体基因多态性。
多发性硬化症(MS)是世界上最常见的神经系统疾病之一,它是一种慢性自身免疫性中枢神经系统(CNS)脱髓鞘疾病。多发性硬化症既有遗传因素,也有环境因素。就环境因素而言,维生素 D 缺乏是最重要的风险因素之一,并且与涉及维生素 D 代谢、转运或活性的基因多态性密切相关。由于维生素 D 的活性需要受体介导的反应,维生素 D 受体(VDR)的任何变化都可能对疾病的病理生理学产生影响。在这项研究中,我们旨在确定 VDR 基因多态性 FokI A>G (rs2228570)、ApaI A>C (rs7975232) 和 BsmI C>T (rs1544410) 与多发性硬化症之间的关系。对 50 名复发性缓解型多发性硬化症(RRMS)患者和 50 名对照组受试者的 FokI、ApaI 和 BsmI 基因型进行了测定。从血液样本中分离出 DNA,然后使用等位基因辨别实时聚合酶链反应(PCR)测定法确定 FokI、ApaI 和 BsmI 基因的多态性。FokI、ApaI和BsmI基因多态性的分布在多发性硬化症患者和对照组之间没有显示出明显的差异。因此,我们认为所研究的 VDR 基因多态性与多发性硬化症之间没有关联。
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