الفهرس 
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Abstract
Multiple sclerosis is a multifactorial autoimmune neurodegenerative demyelinating disease influenced by the combined effects of genes, environment, and their interactions. Despite intense efforts, the genetic pathways underlying MS remain elusive.
Vitamin D is suggested to have a possible role in the pathogenesis of MS. Single nucleotide polymorphisms in the VDR gene may alter the vitamin D immune-regulatory pathway, which would then have an impact on MS risk. The association between VDR gene polymorphism and the risk of MS have been evaluated in several research, however, the findings were inconsistent and inconclusive.
This comparative cross-sectional controlled study aimed to investigate the role of FokI, ApaI and BsmI VDR polymorphisms, specifically allelic and genotypic frequencies, in the development and clinical course of RRMS in Egyptian patients.
The study included 100 subjects who were divided into a group including 50 RRMS patients, and a control group including 50 healthy age and sex matched subjects. The MS patients were diagnosed according to the 2017 McDonald criteria, and the disease severity was scored by EDSS. Detection of FokI (rs2228570), ApaI (rs7975232) and BsmI (rs1544410) VDR gene polymorphisms by allelic discrimination real time PCR was performed for all subjects enrolled in this study.
Regarding FokI VDR SNP (rs2228570), no statistically significant difference was found between MS patients and healthy controls as regards the distribution of FokI genotypes as well as the allelic frequency. Also, we could not find a significant risk association between the variant allele (G allele) of FokI SNP, neither in the dominant genetic model (GG+AG versus AA) nor in the recessive genetic model (AA+AG versus GG), and MS development.
As for ApaI polymorphism (rs7975232), genotypic distribution and allelic frequency of ApaI SNP in the present study didn’t reveal any statistically significant difference between MS cases and controls. The dominant genetic model for the variant allele (C) of ApaI SNP (AC+CC versus AA) as well as the recessive genetic model (AA+AC versus CC) showed no significant risk association with MS development.
The VDR- BsmI polymorphism in the current study didn’t reveal any statistically significant difference between MS cases and controls as regards the distribution of its genotypes and allelic frequency. In addition, MS risk association of the variant allele (T) of VDR-BsmI SNP was insignificant whether for the CT genotype or T allele.
The equation of HWE was employed to assess genetic variation equilibrium in a population. In this study, the genotype distribution of all SNPs in controls and patients exhibited HWE, except for the VDR-BsmI distribution that was not within HWE.
Among the group of RRMS patients in the current study, comparative statistics did not identify significant differences between genotypes of any of the studied VDR gene polymorphisms as regards the age of disease onset, disease duration, relapse frequency, or EDSS scores.
In conclusion, our results showed no association between the FokI, ApaI, and BsmI polymorphisms of the VDR gene and MS risk or disease severity in the Egyptian population.