Stem Cell Research Center, Golestan University of Medical Sciences, Gorgan, Iran; Department of Immunology, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.
Department of Immunology, Molecular and Cell Biology Research Center, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
J Clin Neurosci. 2021 Feb;84:75-81. doi: 10.1016/j.jocn.2020.12.008. Epub 2020 Dec 29.
Multiple sclerosis (MS) is a chronic inflammatory and neurodegenerative disease. Vitamin D has a major role in preventing inflammatory disorders. Therefore, any alteration in vitamin D receptor (VDR) might be a genetic risk factor for MS development. This study aimed to evaluate the effect of serum levels and VDR FokI, BsmI, and TaqI gene polymorphisms on the severity of MS.
This case-control study recruited 160 MS patients (71.9% females, mean age of 34.3 ± 8.3 years) and 162 (66.7% females, mean age 35.4 ± 7.9 year) age, sex, and ethnicity matched healthy controls. FokI (rs2228570), BsmI (rs1544410), and TaqI (rs731236) polymorphisms were carried out using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Demographic, clinical parameters, and the levels of vitamin D were compared between groups.
We found that the frequency of FokI and TaqI polymorphisms significantly differed between the patients and the controls (p = 0.0127 and p = 0.0236, respectively). The MS patients had low levels of vitamin D compared to the controls (p = 0.011). In addition, TaqI T/C polymorphism significantly decreased the levels of vitamin D in the MS patients (p = 0.002). However, there was no significant association between FokI or BsmI SNPs and the levels of vitamin D in MS patients (p > 0.5).
Our results suggest that FokI and TaqI polymorphisms of VDR are associated with MS risk and TaqI polymorphism is associated with Vitamin D levels in MS patients. Meanwhile, no difference was observed between VDR gene polymorphisms and any types of MS.
多发性硬化症（MS）是一种慢性炎症性和神经退行性疾病。维生素 D 在预防炎症性疾病方面具有重要作用。因此，维生素 D 受体（VDR）的任何改变都可能是 MS 发病的遗传风险因素。本研究旨在评估血清水平和 VDR FokI、BsmI 和 TaqI 基因多态性对 MS 严重程度的影响。
本病例对照研究纳入了 160 名 MS 患者（71.9%为女性，平均年龄 34.3±8.3 岁）和 162 名（66.7%为女性，平均年龄 35.4±7.9 岁）年龄、性别和种族匹配的健康对照者。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）法检测 FokI（rs2228570）、BsmI（rs1544410）和 TaqI（rs731236）多态性。比较两组间的人口统计学、临床参数和维生素 D 水平。
我们发现，患者组和对照组之间 FokI 和 TaqI 多态性的频率存在显著差异（p=0.0127 和 p=0.0236）。与对照组相比，MS 患者的维生素 D 水平较低（p=0.011）。此外，TaqI T/C 多态性显著降低了 MS 患者的维生素 D 水平（p=0.002）。然而，FokI 或 BsmI SNP 与 MS 患者的维生素 D 水平之间无显著相关性（p>0.5）。
我们的研究结果表明，VDR 的 FokI 和 TaqI 多态性与 MS 风险相关，TaqI 多态性与 MS 患者的维生素 D 水平相关。同时，VDR 基因多态性与任何类型的 MS 之间无差异。
