Background: The interaction between environmental and genetic factors that influence eye growth, regulated by vision, contributes to the development and progression of myopia. This dynamic interaction significantly contributes to the multifaceted development and progression of myopia, a prevalent ocular condition. Our study delves into the associations between ZNF676 and CTC1 gene polymorphisms and their impact on the relative leukocyte telomere length (relative LTL) in myopia, as well as its degree. By unravelling these underpinnings in conjunction with environmental influences, we aim to enhance our understanding of the complex mechanisms that drive the onset and severity of myopia. Methods: This study included patients with myopia and ophthalmologically healthy subjects. DNA was extracted from peripheral venous blood by the salting out method. Genotyping of ZNF676 rs412658 and CTC1 rs3027234, as well as the measurement of relative LTL, were conducted using a real-time polymerase chain reaction method (RT-PCR). The data obtained were statistically analyzed using the “IBM SPSS Statistics 29.0” software program. Results: The results show that myopic patients who are homozygous for the rs3027234 rare allele genotype of the CTC1 gene have statistically significantly shorter relative LTL compared to patients with the CC and CT genotypes. Also, men with the CTC1 rs3027234 TT genotype have statistically significantly longer leukocyte telomeres than women with the same genotype. The respective median (IQR) of the relative LTL for women and men is 0.280 (0.463) vs. 0.696 (0.440), with a p-value of 0.027. The myopia group with the ZNF676 rs412658 CC genotype has statistically significantly shorter leukocyte telomeres than the control group with the same genotype (age ≤ 29), and the p-value is 0.011. Also, the myopia group with the ZNF676 rs412658 CT and CTC1 rs3027234 CT genotypes have statistically significantly longer leukocyte telomeres than the control group with the same genotypes (age > 29), with p-values that are, respectively, 0.016 and 0.012. The evaluation of the genotype distributions of the polymorphisms in the myopia patients showed that ZNF676 rs412658 CT genotype carriers have 4-fold decreased odds of high myopia occurrence (OR = 0.250; CI: 0.076–0.826; p = 0.023). Also, the evaluation of the allele distributions of the polymorphism under the additive genetic model in the myopia group showed that the ZNF676 rs412658 T allele was associated with similar odds of high myopia (OR = 0.269; 95% CI: 0.090–0.807; p = 0.019). The comprehensive p-value, assessing the relative LTL of subjects across the different levels of myopia, signifies a statistical difference in the relative LTL among individuals with varying degrees of myopia. There was a statistically significant difference in relative LTL between mild and moderate myopia degrees (0.819 (1.983) vs. 0.083 (0.930), p = 0.007). Conclusions: CTC1 rs3027234 TT may be considered a protective genotype for telomere shortening in men, while the overall telomere shortening might be linked to the worse myopia degree. The ZNF676 rs412658 T allele may protect against a high myopia occurrence.

MicroRNAs (miRNAs) are key post-transcriptional regulators implicated in neuroinflammatory and neurodegenerative processes underlying multiple sclerosis (MS). This study aimed to identify candidate miRNAs associated with MS and investigate their involvement in disease-related molecular pathways. An integrated in silico workflow was used to identify MS-associated genes, predict regulatory miRNAs, and characterize enriched pathways. Candidate miRNAs were validated in serum EV-enriched fractions from treated and untreated MS patients and healthy controls using quantitative polymerase chain reaction (qPCR). In silico analysis prioritized four miRNAs (miR-204-5p, miR-17-5p, miR-21-5p, and miR-106a-5p) for validation. Their predicted target genes were enriched in pathways related to immune regulation and central nervous system function, including Th17 cell differentiation, MAPK signaling, cytokine signaling, and axon guidance. qPCR revealed significant differences in miR-21-5p and miR-106a-5p expression between MS patients and healthy controls, while miR-204-5p differed between untreated MS patients and healthy controls. Among the four miRNAs evaluated, miR-21-5p was significantly associated with MS status and showed moderate discrimination between MS patients and healthy controls (AUC = 0.7204). These findings identify serum EV-enriched miRNAs as candidate biomarkers of MS, although validation in larger and longitudinal cohorts is required.