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Vitamin D and Genetic Susceptibility to Multiple Sclerosis
Biochemical Genetics ( IF 2.4 ) Pub Date : 2020-11-07 , DOI: 10.1007/s10528-020-10010-1
Concetta Scazzone 1 , Luisa Agnello 1 , Giulia Bivona 1 , Bruna Lo Sasso 1, 2 , Marcello Ciaccio 1, 2
Affiliation  

Multiple sclerosis (MS) is an autoimmune disease affecting the central nervous system (CNS), resulting from the interaction among genetic, epigenetic, and environmental factors. Vitamin D is a secosteroid, and its circulating levels are influenced by environment and genetics. In the last decades, research data on the association between MS and vitamin D status led to hypothesize a possible role for hypovitaminosis D as a risk factor for MS. Some gene variants encoding proteins involved in vitamin D metabolism, transport, and function, which are responsible for vitamin D status alterations, have been related to MS susceptibility. This review explores the current literature on the influence of vitamin D-related genes in MS susceptibility, reporting all single-nucleotide polymorphisms (SNPs) investigated to date in 12 vitamin D pathway genes. Among all, the gene codifying vitamin D receptor (VDR) is the most studied. The association between VDR SNPs and MS risk has been reported by many Authors, with a few studies producing opposite results. Other vitamin D-related genes (including DHCR7/NADSYN1, CYP2R1, CYP27A1, CYP3A4, CYP27B1, CYP24A1, Megalin-DAB2-Cubilin, FGF-23, and Klotho) have been less investigated and achieved more conflicting evidence. Taken together, findings from the studies reviewed cannot clarify whether and to what extent vitamin D-related gene variants can influence MS risk.



中文翻译:

维生素D与多发性硬化症的遗传易感性

多发性硬化症(MS)是一种遗传性,表观遗传性和环境因素相互作用而影响中枢神经系统(CNS)的自身免疫性疾病。维生素D是类固醇,其循环水平受环境和遗传因素影响。在过去的几十年中,有关MS与维生素D状态之间关系的研究数据导致人们认为维生素D缺乏可能是MS的危险因素。一些编码维生素D代谢,转运和功能的蛋白质的基因变异导致维生素D状态改变,这些变异与MS易感性有关。这篇综述探索了有关维生素D相关基因对MS易感性影响的最新文献,报道了迄今为止在12种维生素D途径基因中研究的所有单核苷酸多态性(SNP)。其中,对维生素D受体(VDR)进行编码的基因研究最多。之间的关联许多作者已经报告了VDR SNP和MS风险,但一些研究却得出相反的结果。对其他维生素D相关基因(包括DHCR7 / NADSYN1,CYP2R1,CYP27A1,CYP3A4,CYP27B1,CYP24A1,Megalin-DAB2-Cubilin,FGF-23Klotho)的研究较少,并获得了更多相互矛盾的证据。综上所述,所审查研究的发现无法阐明维生素D相关基因变体是否以及在多大程度上可以影响MS风险。

更新日期:2020-11-09
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