多种维生素 D 相关多态性在多发性硬化症严重程度中的作用：初步研究结果。
Role of Multiple Vitamin D-Related Polymorphisms in Multiple Sclerosis Severity: Preliminary Findings.
机构信息
Institute of Clinical Biochemistry, Clinical Molecular Medicine and Clinical Laboratory Medicine, Department of Biomedicine, Neurosciences and Advanced Diagnostics, University of Palermo, 90127 Palermo, Italy.
Department of Laboratory Medicine, University Hospital "P. Giaccone", 90127 Palermo, Italy.
出版信息
Genes (Basel). 2022 Jul 22;13(8):1307. doi: 10.3390/genes13081307.
BACKGROUND
Multiple Sclerosis (MS) is a multifactorial disease whose pathogenesis is the result of interaction among genetic, epigenetic, and environmental factors. Among these, a role for vitamin D hypovitaminosis has emerged in recent decades. Vitamin D levels are influenced by both environmental and genetic factors. Single nucleotide polymorphisms (SNPs) in genes codifying for molecules involved in vitamin D metabolism have been associated with an increased risk of developing MS. However, few studies assessed the association of such SNPs with the severity of the disease. The aim of this observational study was to evaluate the potential association among vitamin D status, MS severity, and vitamin D-related SNPs, alone or in combination.
METHODS
In a cohort of 100 MS patients, we genotyped 18 SNPs in the following genes: NAD synthetase 1, CYP2R1, vitamin D binding protein, vitamin D receptor, Retinoid X Receptor-α, KLOTHO, CYP24A1, and CYP27A1. Serum 25(OH)D3 levels were measured by high-performance liquid chromatography. Genotyping was performed by real-time polymerase chain reaction or PCR-RFLP.
RESULTS
We did not find any association between SNPs, alone or in combination, and MS severity.
CONCLUSION
In this study, we make an initial evaluation of the possible influence of several SNPs in vitamin D-related genes on MS severity.
背景
多发性硬化症（MS）是一种多因素疾病，其发病机制是遗传、表观遗传和环境因素相互作用的结果。在这些因素中，维生素 D 缺乏症的作用在最近几十年中已经显现出来。维生素 D 水平受环境和遗传因素的影响。编码参与维生素 D 代谢的分子的基因中的单核苷酸多态性（SNPs）与 MS 发病风险增加有关。然而，很少有研究评估这些 SNPs 与疾病严重程度之间的关联。本观察性研究的目的是评估维生素 D 状态、MS 严重程度和维生素 D 相关 SNPs 之间的潜在关联，单独或组合。
方法
在 100 名 MS 患者的队列中，我们对以下基因中的 18 个 SNPs 进行了基因分型：NAD 合成酶 1、CYP2R1、维生素 D 结合蛋白、维生素 D 受体、视黄醇 X 受体-α、KLOTHO、CYP24A1 和 CYP27A1。通过高效液相色谱法测量血清 25(OH)D3 水平。通过实时聚合酶链反应或 PCR-RFLP 进行基因分型。
结果
我们没有发现 SNPs 单独或组合与 MS 严重程度之间存在任何关联。
结论
在这项研究中，我们初步评估了几种维生素 D 相关基因中的 SNPs 对 MS 严重程度的可能影响。
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