Milanifard Maryam, Mehrabi Soraya, Ahadi Reza, Nabiuni Mohsen, Azimi Souteh Samaneh, Joghataei Mohammad Taghi
Department of Anatomy, School of Medicine, Iran University of Medical Sciences, Tehran.
Department of Neuroscience, Faculty of Advanced Technologies in Medicine, Iran University of Medical Sciences, Tehran.
Eur J Transl Myol. 2025 Mar 31;35(1). doi: 10.4081/ejtm.2024.12993. Epub 2024 Nov 21.
The relationship between the Vitamin D Receptor (VDR) gene and many pathogenic pathways in Relapsing-Remitting Multiple Sclerosis (RRMS) remains unclear. Given the significance of the topic, we conducted this study to explore the correlation between vitamin D receptor gene polymorphisms and clinical and inflammatory factors in patients suffering from relapsing-remitting multiple sclerosis. The current research is a case/control study conducted based on the Helsinki Ethical Principles. RRMS disease was confirmed based on history, clinical symptoms, radiological signs and neurologist diagnosis. The research population consisted of healthy people and patients with RRMS who were referred to Hazrat Rasool Akram Hospital between 2021 and 2023. For each person participating in the study (RRMS patient and healthy), five milliliters of peripheral blood containing the anticoagulant EDTA was collected. Polymerase chain reaction was performed using two specific and appropriate oligonucleotide primers. The restriction fragment length polymorphism technique was used, one of the standard methods for identifying polymorphisms. Statistical analysis was performed using SPSS software version 23. The odds ratio and 95% confidence limits were calculated. The SNP Analyzer software was used to analyze the allele frequency of each polymorphism in healthy and RRMS individuals and compare the values. Prism version 5 software was used to draw diagrams. In the present study, a statistically significant difference was observed between the percentage of FokI genotypes in RRMS patients and healthy individuals. FokI polymorphism showed a significantly increased risk with an odds ratio of 7.28 in patients with the FF genotype compared to healthy individuals. ApaI, TaqI, and BsmI were not significantly different between the two groups. Based on the findings of the present study, FokI polymorphism showed a significant risk increase in RRMS patients with FF genotype compared to healthy individuals.
维生素D受体（VDR）基因与复发缓解型多发性硬化症（RRMS）中许多致病途径之间的关系仍不清楚。鉴于该主题的重要性，我们开展了这项研究，以探讨维生素D受体基因多态性与复发缓解型多发性硬化症患者临床及炎症因子之间的相关性。本研究是一项基于赫尔辛基伦理原则进行的病例对照研究。RRMS疾病根据病史、临床症状、放射学体征及神经科医生诊断得以确诊。研究人群包括2021年至2023年间转诊至哈兹拉特·拉苏勒·阿克拉姆医院的健康人和RRMS患者。对于参与研究的每个人（RRMS患者和健康人），采集了5毫升含抗凝剂乙二胺四乙酸（EDTA）的外周血。使用两条特异且合适的寡核苷酸引物进行聚合酶链反应。采用了限制性片段长度多态性技术，这是鉴定多态性的标准方法之一。使用SPSS 23版软件进行统计分析。计算优势比和95%置信区间。使用SNP分析仪软件分析健康人和RRMS个体中每种多态性的等位基因频率并比较这些值。使用Prism 5版软件绘制图表。在本研究中，观察到RRMS患者和健康个体中FokI基因型百分比存在统计学显著差异。与健康个体相比，FF基因型患者中FokI多态性显示风险显著增加，优势比为7.28。两组之间ApaI、TaqI和BsmI无显著差异。基于本研究结果，与健康个体相比，FF基因型的RRMS患者中FokI多态性显示风险显著增加。
