Zagazig University Medical Journal


AbstractBackground: Multiple sclerosis (MS) is a chronic autoimmune neurodegenerative disease with unknown definite etiology. Many factors have taken part in explanation of MS pathology including genetics and environmental factors. Objectives: in this study we investigated the frequency of vitamin D receptor (VDR) gene (bsm1 and taq1) and interleukin 7 receptor alpha (IL7RA) gene single nucleotide polymorphisms (SNPs) and their association with the risk of MS. Methods: a case control study was performed on two groups. MS group with 63 MS patients diagnosed according to McDonald criteria for MS diagnosis and the control group of 63 apparently healthy individuals not having MS. Blood was collected and DNA was extracted using G-spin™ Total DNA Extraction Mini Kit provided by iNtRON Biotechnology, Korea. DNA was amplified using Polymerase chain reaction. Then analysis for VDR SNPs (bsm1 and taq1) by restriction fragment length polymorphism assay. Amplification refractory mutation system technique was carried out to evaluate IL7RA SNP. Results: we found that there was statistically significant difference in Bsm1 genotyping between case and control groups (p=0.02). As for IL7RA genotype frequency between MS patients and controls there was statistically significant difference (p=0.004). And lastly Taq1genotyping revealed no statistically significant association with MS (p=0.5). Conclusion: we conclude that VDR (Bsm1) and IL7RA SNPs are related to MS pathogenesis while VDR (Taq1) SNP is not a risk factor for MS.



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