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The Influence of TEP1 and TERC Genetic Variants on the Susceptibility to Multiple Sclerosis

Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease of the central nervous system. According to recent studies, cellular senescence caused by telomere shortening may contribute to the development of MS. Aim of the study: Our aim was to determine the associations of TEP1 rs1760904, r...

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Autores principales: Rumšaitė, Gintarė, Gedvilaitė, Greta, Balnytė, Renata, Kriaučiūnienė, Loresa, Liutkevičienė, Rasa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531829/
https://www.ncbi.nlm.nih.gov/pubmed/37762804
http://dx.doi.org/10.3390/jcm12185863
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author Rumšaitė, Gintarė
Gedvilaitė, Greta
Balnytė, Renata
Kriaučiūnienė, Loresa
Liutkevičienė, Rasa
author_facet Rumšaitė, Gintarė
Gedvilaitė, Greta
Balnytė, Renata
Kriaučiūnienė, Loresa
Liutkevičienė, Rasa
author_sort Rumšaitė, Gintarė
collection PubMed
description Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease of the central nervous system. According to recent studies, cellular senescence caused by telomere shortening may contribute to the development of MS. Aim of the study: Our aim was to determine the associations of TEP1 rs1760904, rs1713418, TERC rs12696304, rs35073794 gene polymorphisms with the occurrence of MS. Methods: The study included 200 patients with MS and 230 healthy controls. Genotyping of TEP1 rs1760904, rs1713418 and TERC rs12696304, rs35073794 was performed using RT-PCR. The obtained data were analysed using the program “IBM SPSS Statistics 29.0”. Haplotype analysis was performed using the online program “SNPStats”. Results: The TERC rs12696304 G allele of this SNP is associated with 1.4-fold lower odds of developing MS (p = 0.035). TERC rs35073794 is associated with approximately 2.4-fold reduced odds of MS occurrence in the codominant, dominant, overdominant, and additive models (p < 0.001; p < 0.001; p < 0.001; p < 0.001, respectively). Haplotype analysis shows that the rs1760904-G—rs1713418-A haplotype is statistically significantly associated with 1.75-fold increased odds of developing MS (p = 0.006). The rs12696304-C–rs35073794-A haplotype is statistically significantly associated with twofold decreased odds of developing MS (p = 0.008). In addition, the rs12696304-G—rs35073794-A haplotype was found to be statistically significantly associated with 5.3-fold decreased odds of developing MS (p < 0.001). Conclusion: The current evidence may suggest a protective role of TERC SNP in the occurrence of MS, while TEP1 has the opposite effect.
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spelling pubmed-105318292023-09-28 The Influence of TEP1 and TERC Genetic Variants on the Susceptibility to Multiple Sclerosis Rumšaitė, Gintarė Gedvilaitė, Greta Balnytė, Renata Kriaučiūnienė, Loresa Liutkevičienė, Rasa J Clin Med Article Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease of the central nervous system. According to recent studies, cellular senescence caused by telomere shortening may contribute to the development of MS. Aim of the study: Our aim was to determine the associations of TEP1 rs1760904, rs1713418, TERC rs12696304, rs35073794 gene polymorphisms with the occurrence of MS. Methods: The study included 200 patients with MS and 230 healthy controls. Genotyping of TEP1 rs1760904, rs1713418 and TERC rs12696304, rs35073794 was performed using RT-PCR. The obtained data were analysed using the program “IBM SPSS Statistics 29.0”. Haplotype analysis was performed using the online program “SNPStats”. Results: The TERC rs12696304 G allele of this SNP is associated with 1.4-fold lower odds of developing MS (p = 0.035). TERC rs35073794 is associated with approximately 2.4-fold reduced odds of MS occurrence in the codominant, dominant, overdominant, and additive models (p < 0.001; p < 0.001; p < 0.001; p < 0.001, respectively). Haplotype analysis shows that the rs1760904-G—rs1713418-A haplotype is statistically significantly associated with 1.75-fold increased odds of developing MS (p = 0.006). The rs12696304-C–rs35073794-A haplotype is statistically significantly associated with twofold decreased odds of developing MS (p = 0.008). In addition, the rs12696304-G—rs35073794-A haplotype was found to be statistically significantly associated with 5.3-fold decreased odds of developing MS (p < 0.001). Conclusion: The current evidence may suggest a protective role of TERC SNP in the occurrence of MS, while TEP1 has the opposite effect. MDPI 2023-09-09 /pmc/articles/PMC10531829/ /pubmed/37762804 http://dx.doi.org/10.3390/jcm12185863 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Rumšaitė, Gintarė
Gedvilaitė, Greta
Balnytė, Renata
Kriaučiūnienė, Loresa
Liutkevičienė, Rasa
The Influence of TEP1 and TERC Genetic Variants on the Susceptibility to Multiple Sclerosis
title The Influence of TEP1 and TERC Genetic Variants on the Susceptibility to Multiple Sclerosis
title_full The Influence of TEP1 and TERC Genetic Variants on the Susceptibility to Multiple Sclerosis
title_fullStr The Influence of TEP1 and TERC Genetic Variants on the Susceptibility to Multiple Sclerosis
title_full_unstemmed The Influence of TEP1 and TERC Genetic Variants on the Susceptibility to Multiple Sclerosis
title_short The Influence of TEP1 and TERC Genetic Variants on the Susceptibility to Multiple Sclerosis
title_sort influence of tep1 and terc genetic variants on the susceptibility to multiple sclerosis
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531829/
https://www.ncbi.nlm.nih.gov/pubmed/37762804
http://dx.doi.org/10.3390/jcm12185863
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