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BC: Articoli scritti da P. Ragonese

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