الفهرس 
Multiple sclerosisOnly 14 pages are availabe for public view
 |  | from | 113 |  |  |
| | | from | 113 | | |
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