Rumšaitė, G.; Gedvilaitė, G.; Balnytė, R.; Kriaučiūnienė, L.; Liutkevičienė, R. The Influence of TEP1 and TERC Genetic Variants on the Susceptibility to Multiple Sclerosis. J. Clin. Med.2023, 12, 5863.
Rumšaitė, G.; Gedvilaitė, G.; Balnytė, R.; Kriaučiūnienė, L.; Liutkevičienė, R. The Influence of TEP1 and TERC Genetic Variants on the Susceptibility to Multiple Sclerosis. J. Clin. Med. 2023, 12, 5863.
Rumšaitė, G.; Gedvilaitė, G.; Balnytė, R.; Kriaučiūnienė, L.; Liutkevičienė, R. The Influence of TEP1 and TERC Genetic Variants on the Susceptibility to Multiple Sclerosis. J. Clin. Med.2023, 12, 5863.
Rumšaitė, G.; Gedvilaitė, G.; Balnytė, R.; Kriaučiūnienė, L.; Liutkevičienė, R. The Influence of TEP1 and TERC Genetic Variants on the Susceptibility to Multiple Sclerosis. J. Clin. Med. 2023, 12, 5863.
Abstract
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: 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. Statistical analysis of the obtained data was performed 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 a 1.4-fold lower odds of developing MS (p=0.035). TERC rs35073794 is associated with an 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 a 1.75-fold increased odds of developing MS (p=0.006). The rs12696304-C - rs35073794-A haplotype is statistically significantly associated with a 2-fold decreased odds of developing MS (p=0.008). In addition, the rs12696304-G - rs35073794-A haplotype was found to be statistically significantly associated with a 5.3-fold decreased odds of developing MS (p<0.001). Conclusion: Current evidence may suggest a protective role of TERC SNP in the occurrence of MS, while TEP1 has the opposite effect.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
