Italian 
English Evaluation of a panel of polymorphisms in vitamin D-related genes, vitamin D status and Multiple Sclerosis
AUTORI
1Institute of Clinical Biochemistry, Clinical Molecular Medicine and Clinical Laboratory Medicine, Department of Biomedicine, Neurosciences and Advanced Diagnostics, University of Palermo, Palermo, Italy
2Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
3Department of Laboratory Medicine, University Hospital “P. Giaccone”, Palermo, Italy
ABSTRACT
Evaluation of a panel of polymorphisms in vitamin D-related genes, vitamin D status and Multiple Sclerosis
Introduction: the role of hypovitaminosis D as risk factor for Multiple Sclerosis (MS) is well known. Vitamin D status is the result of the interaction between environmental and genetic factors. Several single nucleotide polymorphisms (SNPs) in genes codifying for molecules involved in vitamin D pathway have been associated with an increased risk of MS. However, few studies evaluated the association of these SNPs with MS severity. The aim of this study was to investigate the association among a panel of vitamin D-related SNPs, vitamin D status, and MS severity. Methods: one hundred MS patients were enrolled in the study. Serum 25(OH)D3 levels and genotyping of SNPs in vitamin D-related genes were evaluated in all patients by high-performance liquid chromatography or real-time polymerase chain reaction. MS severity was assessed by Multiple Sclerosis Severity Score (MSSS). Results: three SNPs of the NADSYN1 gene, namely rs3829251, rs7944926 and rs12785878, and the rs2248137 SNP of the CYP24A1 gene were significantly associated with 25(OH)D3 levels. However, neither serum 25(OH)D3 levels nor the SNPs of the NADSYN1 or of the CYP24A1 genes were associated with disease severity. Discussion: in this study, we assessed the hypothesis that the presence of SNPs in vitamin D-related genes could influence MS severity. However, the statistical analysis indicates that there is no correlation between the severity of the disease and the polymorphisms considered.