Abstract: EP1477
Type: ePoster
Abstract Category: Pathology and pathogenesis of MS - 14 Genetics/Epigenetics
Background: 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 gain great attention from scientific community.
Objectives: The aim of our study was to assess the role of NADSYN1 and CYP2R1 genes in relation to serum 25-OH-vitamin D3 levels in MS.
Materials and methods: We investigated on five single nucleotide polymorphisms in NADSYN1 and CYP2R1 genes in relation to serum 25-OH-vitamin D3 levels in 105 MS patients and 130 controls. Genotyping of CYP2R1- and NADSYN1-SNPs was performed by TaqMan allelic discrimination
(Life Technologies).
Results: We found lower 25-OH-vitamin D3 concentrations in MS patients than in controls. The most relevant finding obtained allows us to propose that rs10766197 CYP2R1 SNP is associated with MS risk. After stratifying MS patients according to gender, we found that the minor allele A of rs10766197 had a higher frequency in men in comparison to women affected by MS and an association with disease progression, assessed by EDSS and MSSS scores, only in MS men.
Conclusions: This finding opens new perspectives for a role of CYP2R1 in both risk and progression of MS.
Disclosure: No potential conflict of interest exists concerning the data presented for all the coauthors. Giuseppe Salemi, Paolo Ragonese, and Sabrina Realmuto received fees by Merck-Serono, Sanofy Aventis, Biogen-Dompè, TEVA, Novartis, Schering, Almirall, and Roche.
Concetta Scazzone, Luisa Agnello, Bruna Lo Sasso, Chiara Bellia, Giulia Bivona, Rosaria Schillaci, and, Marcello Ciaccio have nothing to declare.
Abstract: EP1477
Type: ePoster
Abstract Category: Pathology and pathogenesis of MS - 14 Genetics/Epigenetics
Background: 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 gain great attention from scientific community.
Objectives: The aim of our study was to assess the role of NADSYN1 and CYP2R1 genes in relation to serum 25-OH-vitamin D3 levels in MS.
Materials and methods: We investigated on five single nucleotide polymorphisms in NADSYN1 and CYP2R1 genes in relation to serum 25-OH-vitamin D3 levels in 105 MS patients and 130 controls. Genotyping of CYP2R1- and NADSYN1-SNPs was performed by TaqMan allelic discrimination
(Life Technologies).
Results: We found lower 25-OH-vitamin D3 concentrations in MS patients than in controls. The most relevant finding obtained allows us to propose that rs10766197 CYP2R1 SNP is associated with MS risk. After stratifying MS patients according to gender, we found that the minor allele A of rs10766197 had a higher frequency in men in comparison to women affected by MS and an association with disease progression, assessed by EDSS and MSSS scores, only in MS men.
Conclusions: This finding opens new perspectives for a role of CYP2R1 in both risk and progression of MS.
Disclosure: No potential conflict of interest exists concerning the data presented for all the coauthors. Giuseppe Salemi, Paolo Ragonese, and Sabrina Realmuto received fees by Merck-Serono, Sanofy Aventis, Biogen-Dompè, TEVA, Novartis, Schering, Almirall, and Roche.
Concetta Scazzone, Luisa Agnello, Bruna Lo Sasso, Chiara Bellia, Giulia Bivona, Rosaria Schillaci, and, Marcello Ciaccio have nothing to declare.