| Abstract [eng] |
Age-related macular degeneration (AMD) is a progressive disease that affects the macular region of the retina and is the most common and leading cause of irreversible blindness in people over the age of 60 worldwide. It is a complex, multifactorial disease. Genes associated with AMD are involved in the modulation of the complement system, extracellular matrix, telomere shortening, and lipid metabolism. The increasing understanding of genetic mechanisms is leading to the discovery and analysis of new gene variations associated with the pathogenesis of the disease. Critically short telomeres lead to aging, which plays an important role in the development of AMD. Polymorphisms in the TEP1 and TERC genes, which influence telomerase activity, are associated with changes in telomere length. Most neurodegenerative diseases are age-related and telomere shortening is an important factor in ageing. Although the pathogenetic mechanism of AMD is still not fully understood, laboratory diagnostic studies are being conducted to discover links to disease staging and pathogenesis. This study aimed to determine the association of TEP1 (rs1760904, rs1713418) and TERC (rs12696304, rs35073794) gene polymorphisms and biochemical blood analytes with the occurrence of age-related macular degeneration. The study suggests that polymorphisms in the TEP1 (rs1760904, rs1713418) and TERC (rs12696304, rs35073794) genes could be potential biomarkers for the detection of forms of AMD. The results show that TEP1 rs1760904 has a protective effect in exudative AMD, while TEP1 rs1713418 has a protective effect in early AMD. In addition, the A allele of the TERC gene, rs35073794, has a protective impact on exudative and atrophic AMD. It has also been shown that patients with early and atrophic AMD have elevated blood glucose and triglyceride levels. These studies should be further developed in future research to elucidate the pathogenesis of AMD and the impact of telomere-associated gene alterations and biochemical blood analytes on the disease. |
