Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |
_version_ | 1785111812149084160 |
---|---|
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. |
format | Online Article Text |
id | pubmed-10531829 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT rumsaitegintare theinfluenceoftep1andtercgeneticvariantsonthesusceptibilitytomultiplesclerosis AT gedvilaitegreta theinfluenceoftep1andtercgeneticvariantsonthesusceptibilitytomultiplesclerosis AT balnyterenata theinfluenceoftep1andtercgeneticvariantsonthesusceptibilitytomultiplesclerosis AT kriauciunieneloresa theinfluenceoftep1andtercgeneticvariantsonthesusceptibilitytomultiplesclerosis AT liutkevicienerasa theinfluenceoftep1andtercgeneticvariantsonthesusceptibilitytomultiplesclerosis AT rumsaitegintare influenceoftep1andtercgeneticvariantsonthesusceptibilitytomultiplesclerosis AT gedvilaitegreta influenceoftep1andtercgeneticvariantsonthesusceptibilitytomultiplesclerosis AT balnyterenata influenceoftep1andtercgeneticvariantsonthesusceptibilitytomultiplesclerosis AT kriauciunieneloresa influenceoftep1andtercgeneticvariantsonthesusceptibilitytomultiplesclerosis AT liutkevicienerasa influenceoftep1andtercgeneticvariantsonthesusceptibilitytomultiplesclerosis |