الفهرس | Only 14 pages are availabe for public view |
Abstract Multiple sclerosis (MS) is an autoimmune chronic inflammatory disease of the central nervous system (CNS) causing inflammatory demyelination and axonal transection withf irreversible neurologic damage. Diagnosis of MS generally is between the first and second decades of life. In 2016, the prevalence of MS in Egypt was 13.7/100,000 for the age ≥ 17 years. MS is a multifactorial disorder, in which environmental factors interact with genetically susceptible individuals. The McDonald’s criteria are the most commonly used criteria for MS diagnosis. Vitamin D is a secosteroid mainly produced in the skin by the action of Ultra-Violet B (UVB) rays. Vitamin D is crucial for bone and calcium homeostasis, adequate neuromuscular functions, brain neurotransmission, and immune system regulation. Vitamin D initiates its biological responses by binding to the nuclear vitamin D receptor (VDR), a phosphoprotein that regulates the gene expression via zinc finger-mediated DNA binding and protein–protein interactions. The VDR gene is located on chromosome 12 (12q13.11) and contains nine exons. Several common allelic variants have been identified, and some variants may have consequences on VDR function and activity. The most widely studied are Apa-I (rs7975232), Bsm-I (rs1544410), Fok-I (rs10735810), and Taq-I (rs731236). The main aim of the study: Our research aimed to study the genotype and the frequency of VDR gene BsmI A/G in the intron 8 (rs1544410) variant and serum level of Vitamin D in patients with Multiple Sclerosis at the diagnosis. One hundred and five subjects were recruited in this study and divided into 2 groups: group I, 50 MS patients that were diagnosed according to McDonald criteria from MS clinic, Kasr-Alainy medical school, and group II, 50 age and sex matched healthy subjects were included as a control group. All patients were subjected to thorough history taking, clinical, and neuro logical examination. The study has been carried out following the approval of the Ethics Committee of the Faculty of Medicine, Cairo University. Informed consent to participate in the study was obtained from all participants. The main results of the study showed that: There are three main types of MS which are CIS, RRMS and SPMS. MS patients were diagnosed by OCB as type 2 and type 3 and their distribution in MS group VDR gene variants genotypes and the allelic distribution of these variants. Regarding Bsm1, there is no statistically significant difference between group 1 (cases) and group 2 (controls) with p value 0.124. However, there is a statistical difference in the allelic distribution between A allele and G allele with in p value 0.045 and OR of 3 (0.99-9 95% CI for OR) for GG genotype. As for Apa1 and Taq1 variants, there is no statistically significant difference between group 1 (cases) and group 2 (controls) with p value 0.423 and 0.161 respectively and also for the allelic distribution with p value 0.3 and 0.196 respectively. The relation of serum level of vitamin D between MS group and control group shows no statistically significant difference |