scholarly journals Association of Polymorphic Variants of Brain-Derived Neurotrophic Factor Gene (Bdnf Rs6265) and Glutamate Transporter Gene of the Second Type (Slc1a2 Rs4354668) with the Course of Multiple Sclerosis in Patients Living in Tomsk Region

2019 ◽  
Vol 74 (1) ◽  
pp. 14-19
Author(s):  
Semkina A. AnastasiIa ◽  
Diana Z. Osmanova ◽  
Valentina M. Alifirova ◽  
Marina A. Titova ◽  
Ekaterina S. Koroleva ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Clinical Manifestations ◽  
Glutamate Transporter ◽  
Control Group ◽  
Transporter Gene ◽  
Tomsk Region ◽  
Polymorphic Variants ◽  
The Moment ◽  
Glutamate Transporter Gene ◽  
Bdnf Rs6265

Background: Multiple sclerosis (MS) is an autoimmune disease of the central nervous system that affects people of working age and ultimately leads to disability. This disease is of polygenic origin. The role of factors related to the pathogenesis of the disease and affecting both neuroinflammation and remyelination is studied. Aims: Our goal was to investigate the association of single nucleotide polymorphisms BDNF rs6265 and SLC1A2 rs4354668 with the risk of occurrence, clinical manifestations and the course of MS.Materials and methods: The study included 302 patients with MS, 268 healthy volunteers were enrolled in a control group. The obtained blood was used for DNA extraction by standard phenol-chloroform method. The identification of allelic variants of genes SLC1A2 (rs4354668) and BDNF (rs6265) was performed by polymerase chain reaction.Results: When comparing the frequencies of genotypes and alleles of polymorphic variants of BDNF and SLC1A2 genes between the groups of MS patients and the control group, no statistically significant differences were revealed. Comparison of genotype and allele frequencies of patients depending on sex, age of onset of the disease also did not reveal statistically significant differences. The study of the association of polymorphic variant of the gene BDNF (rs6265) with clinical manifestations of the disease revealed the association of genotype CC with oculomotor and trigeminal disorders at the onset of the disease (F=7, p=0.017). The study of the polymorphic variant rs4354668 of the glutamate transporter gene SLC1A2 revealed the association of allele G with an earlier (within 5 years from the moment of debut) transition of the disease to the stage of secondary progression, despite the therapy with DMT (χ2=5.940; p=0.010; OR 1.58; 95% CI 1.09−2.29). Homozygous genotype of TT (χ2=6.393; p=0.041; OR 0.50; 95% CI 0.28−0.88) and allele T (χ2=5.940; p=0.010; OR 0.63; 95% CI 0.44−0.92) of the polymorphism rs4354668 of the glutamate transporter gene SLC1A2 are significantly more common in the group of patients with late transition (15 years or more from the moment of debut) to the secondary progressive course.Conclusions: In our study we revealed the relationship of the studied polymorphic variants of genes with clinical signs at the onset of the disease and with the clinical manifestations of MS in patients living in the Tomsk region.

scholarly journals Analytical epidemiology of multiple sclerosis in the Republic of Kabardino-Balkaria

2021 ◽  
Vol 13 (1S) ◽  
pp. 10-14
Author(s):  
L. B. Tlapshokova ◽  
A. R. Zikhova
Keyword(s):  
Risk Factors ◽  
Multiple Sclerosis ◽  
Environmental Factors ◽  
Scarlet Fever ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Control Group ◽  
Place Of Residence ◽  
History Of ◽  
The Republic

Multiple sclerosis (MS) is a common autoimmune disease, which etiology includes a complex of genetic and environmental factors. Data suggests that their interaction can influence the age of the clinical manifestations and the course of the disease. Therefore, the study of risk factors of MS in regions with different ethnic compositions of the population and climatic and geographical characteristics is of considerable interest.Objective: to study MS risk factors prevalence in the Republic of Kabardino-Balkaria (RKB).Patients and methods. This case-control study of the representation of risk factors included a cohort of 112 MS patients living in two regions of the RKB (Nalchik and the Prokhladnensky district). The MS diagnosis was established with the McDonald criteria (2017). MS risk factors were assessed with a unified questionnaire. 112 respondents (matched by the main demographic characteristics and place of residence) were included in the control group.Results and discussion. MS patients from the Prokhladnensky district were significantly more likely to contact harmful chemical compounds, had higher consumption of smoked meat products; and suffered from viral infections more often (all differences were significant, p<0.05). More patients with MS, regardless of their place of residence, had a history of scarlet fever than the controls (n=23; 19.5% and n=14; 13.4%, ratio indicator 0.43 (95% CI 0.32–1.01), p=0.041), and the maximum significance of this factor was found in patients who suffered from scarlet fever after the age of 15 years (n=7; 6.3% and n=1; 0.9%, ratio indicator 2.45 (95% CI 1.92–3.21), p=0.041). More patients with MS had a history of chickenpox (n=70; 62.5% and n=55; 41.1%; ratio indicator 0.78 (95% CI 0.65–0.94, p=0.032), the frequency of this factor was most significant in early (up to 7 years) disease onset. Regardless of the place of residence, patients with MS were more likely to suffer from tonsillitis and sinusitis in childhood (p=0.032).Conclusion. In the RKB, as in other regions of the Russian Federation, the risk of MS, along with a genetic predisposition, is primarily determined by environmental factors, such as contact with potentially harmful chemicals, history of somatic diseases, characteristics of the ecological situation, etc. Therefore, MS risk is higher in people exposed to these factors before the age of 7 years and does not depend on the place of residence. 

scholarly journals Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Monika Chorąży ◽  
Natalia Wawrusiewicz-Kurylonek ◽  
Edyta Adamska-Patruno ◽  
Olga Zajkowska ◽  
Katarzyna Kapica-Topczewska ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
T Cell ◽  
Genetic Variants ◽  
Age Of Onset ◽  
Clinical Manifestations ◽  
Control Group ◽  
T Cell Homeostasis ◽  
Single Nucleotide Variants ◽  
Cell Homeostasis ◽  
Cd40 Gene

Purpose. Multiple sclerosis (MS) is an autoimmune disease, and genetic factors play an important role in its pathogenesis and progression. The aim of our study was to evaluate the frequencies of alleles and genetic variants of the T-cell homeostasis-related genes, in subjects with MS, as well as to investigate the association with MS clinical manifestations and disability. Methods. 94 subjects with MS and 160 healthy individuals have been genotyped for seven common single-nucleotide variants in IL-2RA, CTLA4, CD40, and PADI4 genes. The ages of onset, duration of the disease, and clinical condition of the MS subjects were analysed. We used the Chi2 test confirmed with Fisher’s exact test for statistical analysis. Results. The frequency of allele T and CT/TT genotypes (rs7093069) in the IL2RA gene, as well as the T allele and CT/TT genotypes in rs12722598, were significantly higher in the control group. The significant differences between studied groups we also found for the G allele and GG/GA genotypes of rs3087243 in CTLA4 gene, which were more common among the control group. The heterozygous genotype TC (rs1883832) of CD40 gene was more common in the control subjects, and the frequency of the alleles and genotypes in the rs1748033 of the PADI4 gene did not differ between the studied groups. Between the studied genotypes, we did not observe any significant differences in the age of onset and duration of disease, including sex stratification. Conclusion. Our results highlight the protective role of some of the T-cell homeostasis-related genetic variants in MS development, but not in its clinical manifestation.

Glutamate transporter gene polymorphisms and obsessive-compulsive disorder: A case-control association study

2019 ◽  
Vol 62 ◽  
pp. 53-59 ◽  
Author(s):  
Juliana B. de Salles Andrade ◽  
Isabele G. Giori ◽  
Fernanda B. Melo-Felippe ◽  
Tamiris Vieira-Fonseca ◽  
Leonardo F. Fontenelle ◽  
...  
Keyword(s):  
Association Study ◽  
Obsessive Compulsive Disorder ◽  
Gene Polymorphisms ◽  
Glutamate Transporter ◽  
Case Control ◽  
Transporter Gene ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Control Association ◽  
Glutamate Transporter Gene

GLUTAMATE AND A DELTA OPIOID AGONIST REGULATE GLUTAMATE TRANSPORTER GENE EXPRESSION

1996 ◽  
Vol 8 (4) ◽  
pp. 332
Author(s):  
T Thorlin ◽  
R S Roginski ◽  
K Choudhury ◽  
M Nilsson ◽  
L Rnnbck ◽  
...  
Keyword(s):  
Gene Expression ◽  
Glutamate Transporter ◽  
Transporter Gene ◽  
Opioid Agonist ◽  
Glutamate Transporter Gene

Transcriptional control of cystine/glutamate transporter gene by amino acid deprivation

2004 ◽  
Vol 325 (1) ◽  
pp. 109-116 ◽  
Author(s):  
Hideyo Sato ◽  
Shinobu Nomura ◽  
Kanako Maebara ◽  
Kanako Sato ◽  
Michiko Tamba ◽  
...  
Keyword(s):  
Amino Acid ◽  
Transcriptional Control ◽  
Glutamate Transporter ◽  
Amino Acid Deprivation ◽  
Transporter Gene ◽  
Glutamate Transporter Gene
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