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Editor-in-chief
Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

EIC Assistant
Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada


Publisher
Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Chiara Riva
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it

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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091



BC: Articoli scritti da C M. Gambino

Evaluation of a panel of polymorphisms in vitamin D-related genes, vitamin D status and Multiple Sclerosis
Evaluation of a panel of polymorphisms in vitamin D-related genes, vitamin D status and Multiple Sclerosis
<p><span style="color:#333333; font-family:arial,sans-serif; font-size:10.0pt">Introduction: the role of hypovitaminosis D as risk factor for Multiple Sclerosis (MS) is well known. Vitamin D status</span> 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.</p>
Biochimica Clinica ; 46(2) 122-125
Contributi Scientifici - Scientific Papers