Association of CYP2R1 rs10766197 with MS risk and disease progression

6533b839fe1ef96bd12a658c

RESEARCH PRODUCT

Association of CYP2R1 rs10766197 with MS risk and disease progression

Marcello Ciaccio 6 Concetta Scazzone Luisa Agnello Giuseppe Salemi Rosaria Schillaci Paolo Ragonese Giulia Bivona Chiara Bellia Bruna Lo Sasso

subject

Adult Male 0301 basic medicine Oncology medicine.medical_specialty Pathology Multiple Sclerosis Genotype Single-nucleotide polymorphism Polymorphism Single Nucleotide Severity of Illness Index polymorphism Disability Evaluation 03 medical and health sciences Cellular and Molecular Neuroscience Sex Factors 0302 clinical medicine Internal medicine gender medicine Vitamin D and neurology Humans SNP Genetic Predisposition to Disease NADSYN1 Allele Cytochrome P450 Family 2 Genotyping Retrospective Studies business.industry Multiple sclerosis Case-control study vitamin d Middle Aged medicine.disease Minor allele frequency 030104 developmental biology Case-Control Studies multiple sclerosi Disease Progression CYP2R1 Cholestanetriol 26-Monooxygenase Female Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor genetic business 030217 neurology & neurosurgery

description

Background 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. The aim of our study was to assess five SNPs in NADSYN1 and CYP2R1 genes in relation to serum 25-OH-vitamin D3 levels in MS patients and controls. Methods 25-OH-vitamin D3 levels and genotyping of CYP2R1- and NADSYN1-SNPs were investigated both in MS patients and in healthy controls. Results The analysis revealed lower 25-OH-vitamin D3 concentrations in MS patients than in controls and an association of rs10766197 CYP2R1 SNP 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. Additionally, the presence of allele A in men was associated with disease progression, assessed by EDSS and MSSS scores. Conclusion The findings of our study open new perspectives for a role of CYP2R1 in both risk and progression of MS, with sex-related differences.

year	journal	country	edition	language
2017-05-24	Journal of Neuroscience Research

https://doi.org/10.1002/jnr.24133