Member area login
You don't have or don't remember the password!
Click Here
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

--------------------

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



BC: Articoli scritti da C. Scazzone

Un nuovo ruolo del CYP2R1nella sclerosi multipla
A new role of CYP2R1 in multiple sclerosis
<p>Multiple sclerosis (MS) is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Among these, vitamin D and genetic variants associated with vitamin D metabolism have gained great attention. The aim of our study was to assess two single nucleotide polymorphisms (SNPs) in CYP2R1 in relation to serum 25-OH-vitamin D3 levels in MS patients and healthy controls. 25-OH-vitamin D3 serum concentrations and genotyping of CYP2R1-SNPs gene were analysed both in MS patients and in healthy controls. In particular, rs10741657 and rs10766197 of CYP2R1 gene were assessed by real-time allelic discrimination Taq-Man assay (Applied Biosystems, Forster City, USA); 25-OH-vitamin D3 serum concentration was measured by a high-performance liquid chromatography (HPLC) method. Statistical analysis was performed by a SPSS software (version 13.0). The analysis of the obtained results showed lower 25-OH-vitamin D3 concentrations in MS patients than in controls. When comparing genotype distribution and allele frequencies of the two selected SNPs between cases and controls, significant differences were observed only for CYP2R1 rs10766197. Minor allele of CYP2R1 rs10766197 (A) was significantly represented in MS patients, demonstrating an association of allele A to MS. Analysis of the CYP2R1 rs10766197 distribution in MS patients showed that patients carrying the genotype AA had a trend of lower levels of 25-OH-vitamin D3 in comparison to those with genotype GG or GA, although not statistically significant. Moreover, after stratifying MS patients according to gender, we found that the minor allele A of rs10766197 in homozygosis was associated with disease progression, assessed by Expanded Disability Status Scale and Multiple Sclerosis Severity Score scores, only in men. Our study demonstrates a role of CYP2R1 in both risk and progression of MS, with sex-related differences</p>
Biochimica Clinica ; 42(4) 294-299
Contributi Scientifici - Scientific Paper
 
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 ; 17(1)
Contributi Scientifici - Scientific Papers