Vitamin D and Genetic Susceptibility to Multiple Sclerosis
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REVIEW ARTICLE
Vitamin D and Genetic Susceptibility to Multiple Sclerosis Concetta Scazzone1 • Luisa Agnello1 • Giulia Bivona1 • Bruna Lo Sasso1,2 Marcello Ciaccio1,2
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Received: 28 October 2019 / Accepted: 22 October 2020 Ó Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract 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. Keywords Vitamin D Genetic Genes SNP Multiple sclerosis Susceptibility
Concetta Scazzone and Luisa Agnello have contributed equally to the study. & Marcello Ciaccio [email protected] 1
Department of Biomedicine, Neurosciences and Advanced Diagnostics, Institute of Clinical Biochemistry, Clinical Molecular Medicine and Laboratory Medicine, University of Palermo, Via del Vespro, 129, CAP 90127 Palermo, Sicily, Italy
2
Department of Laboratory Medicine, University-Hospital, Palermo, Italy
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Biochemical Genetics
Introduction Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS). It is characterized by the gradual destruction of myelin due to an autoimmune response against self-antigens (Tiwari et al. 2018). MS represents a common neurological disease in young adult, being generally diagnosed between the third and the firth decade of life (Hunter 2016). It is characterized by a sexual dimorphism influencing both incidence and severity of the disease. In particular, the prevalence is higher in women than in men, with female-to-male ratio of 2:1–3:1, (Ramagopalan et al. 2009; Golden and Voskuhl 2017). Men present an overall worse course of the disease, with a rapid accrual of disability and progression (Golden and Voskuhl 2017).
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