Section of Clinical Biochemistry and Clinical Molecular Medicine, Department of Biopathology and Medical Biotechnologies, University of Palermo, Via del Vespro 129, 90127, Italy.
Department of Experimental Biomedicine and Neuroscience, University of Palermo, Via del Vespro 129, 90127, Italy.
J Neurosci Res. 2018 Feb;96(2):297-304. doi: 10.1002/jnr.24133. Epub 2017 Aug 23.
MS is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Among these, vitamin D and genetic variants associated with vitamin D-metabolism gain great attention. The aim of our study was to assess five SNPs in NADSYN1 and CYP2R1 genes in relation to serum 25-OH-vitamin D3 levels in MS patients and controls.
25-OH-vitamin D3 levels and genotyping of CYP2R1- and NADSYN1-SNPs were investigated both in MS patients and in healthy controls.
The analysis revealed lower 25-OH-vitamin D3 concentrations in MS patients than in controls and an association of rs10766197 CYP2R1 SNP with MS risk. After stratifying MS patients according to gender, we found that the minor allele A of rs10766197 had a higher frequency in men in comparison to women affected by MS. Additionally, the presence of allele A in men was associated with disease progression, assessed by EDSS and MSSS scores.
The findings of our study open new perspectives for a role of CYP2R1 in both risk and progression of MS, with sex-related differences.
多发性硬化症（MS）是一种神经退行性自身免疫性疾病，是遗传和环境因素复杂相互作用的结果。在这些因素中，维生素 D 及其与维生素 D 代谢相关的遗传变异备受关注。我们的研究目的是评估 NADSYN1 和 CYP2R1 基因中的五个单核苷酸多态性（SNPs）与 MS 患者和对照组血清 25-羟维生素 D3 水平的关系。
对 MS 患者和健康对照者进行 25-羟维生素 D3 水平和 CYP2R1-和 NADSYN1-SNPs 基因分型检测。
分析显示，MS 患者的 25-羟维生素 D3 浓度低于对照组，且 CYP2R1 基因 rs10766197 单核苷酸多态性与 MS 风险相关。根据性别对 MS 患者进行分层后，我们发现与女性 MS 患者相比，rs10766197 的次要等位基因 A 在男性中更为常见。此外，男性中存在等位基因 A 与 EDSS 和 MSSS 评分评估的疾病进展相关。
我们的研究结果为 CYP2R1 在 MS 的风险和进展中发挥作用提供了新的视角，且存在性别差异。
