Unit:
Κατεύθυνση ΦαρμακολογίαLibrary of the School of Science
Author:
Pariou Stavroula-Ioanna
Supervisors info:
Δρακούλης Νικόλαος , Καθηγητής, Τμήμα Φαρμακευτικής, ΕΚΠΑ, (Επιβλέπων)
Ανδρεάδου Ιωάννα, Καθηγήτρια Τμήμα Φαρμακευτικής, ΕΚΠΑ,
Παπαπετρόπουλος Ανδρέας, Καθηγητής Τμήμα Φαρμακευτικής, ΕΚΠΑ
Original Title:
Μελέτη συσχέτισης των γενετικών πολυμορφισμών rs1800795, rs1800629 και rs6265 με την εμφάνιση και την συμπτωματολογία έναρξης της Πολλαπλής Σκλήρυνσης.
Translated title:
Association study of the genetic polymorphisms rs1800795, rs1800629 and rs6265 with the appearance and symptoms onset of Multiple Sclerosis.
Summary:
Multiple Sclerosis (MS) is a chronic autoimmune inflammatory disease characterized by neuronal demyelination affecting the function of the Central Nervous System (CNS). The etiology of MS remains unknown, although current scientific data suggests an association between environmental factors and common genetic variants, which may determine susceptibility to the disease. In particular, at least 200 Single Nucleotide Polymorphisms (SNPs) have been identified, which appear to be associated with the risk of MS.
In the present study, in which 200 volunteer patients with MS and 207 volunteer controls from the general population of Southeast European Caucasian origin took part, the incidence of a total of 3 (three) single nucleotide polymorphisms (SNPs) in genes (1) rs1800795-IL6, (2) rs1800629-TNFa, (3) rs6265-BDNF associated with inflammation, were investigated in order to examine their association or not with the disease onset.
The participants' blood samples were collected and the genetic material (DNA) was isolated. The identification of the genotypes for the under investigation genetic polymorphisms was conducted by KASP PCR method and then the statistical analysis of the results was carried out.
The statistical analysis of the results was divided into two parts. A statistical analysis of the distribution of genotypes for the studied polymorphisms was first performed between the patient and control populations in which no statistically significant effect has been shown (p value>0.05). Subsequent analysis in subgroups of patients showed a statistically significant difference in the distribution of genotypes between patients who had motor problems as a disease onset symptom compared to patients without motor problems as a disease onset symptom for the rs1800795 polymorphism in IL6 gene.
Further studies, with a larger sample size, are required to confirm the findings of the present study and to provide additional information about the role of the studied polymorphisms (rs1800795, rs1800629, rs6265) in the occurrence of MS, taking into account interactions between other related genes and between related genes and the environment.
Main subject category:
Science
Other subject categories:
Health Sciences
Keywords:
single nucleotide polymorphisms, multiple sclerosis, symptoms
File:
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PARIOU STAVROULA IOANNA - MASTER THESIS.pdf
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File access is restricted until 2026-05-21.
