Yaşa bağli makula dejenerasyonu gelişiminde APOA1 geninde genetik varyasyonlarin araştirilmasi

Investigation of Genetic Variations in the Apo A1 Gene in the Development of Age-Related Macular Degeneration Objective: To evaluate the relationship between age-related macular degeneration (ARMD) and the rs1799837 and rs5069 polymorphisms of the Apo A1 gene. Materials and Methods: This is a prospective and cross-sectional study in which dry-type ARMD, wet-type ARMD and control group without ARMD similar age and gender-matched patients who addmitted to the Inonu University Faculty of Medicine Ophthalmology Unit between March 2020 and March 2021 were included. The study was conducted with 42 patients from dry-type ARMD, 112 from wet-type ARMD, and 87 patients from the control group without ARMD. A complete ophthalmologic examination was performed in all cases. In addition to slit-lamp examination, ARMD was diagnosed based on optical coherence tomography (OCT), OCT angiography and, if necessary, fundus fluorescein angiography imaging studies. 3cc of peripheral venous blood was taken from the cases and DNA isolation was carried out using appropriate commercial kits. Appropriate primers were designed for the rs1799837 and rs5069 polymorphisms of the Apo A1 gene, and DNA sequences were amplified by these primers by polymerase chain reaction (PCR) and run on agarose gel to check the PCR function. Results: The gender distribution of the cases included in the study was 34 (39.1%) female and 53 (60.9%) male in the control group; 41 (36.6%) female and 71 (63.4%) male in the wet-type ARMD group; 15 (35.7%) female and 27 (64.3%) male in the dry type ARMD group. The mean age of the cases was 69.67±6.2 years in the control group, 70.02±5.36 years in the dry-type ARMD group and 70.55±6.63 years in the wet-type ARMD group. There was no statistically significant difference between the groups in terms of age and gender (p>0.05). Apo A1 gene rs1799837 polymorphism 'CC' homozygous genotype difference was statistically significant in both dry-type ARMD and wet-type ARMD groups compared to the control group (p˂0,05). There was no statistical difference between the groups in terms of C or T allele distribution for the Apo A1 gene rs1799837 SNP (p>0.05). Apo A1 gene rs5069 polymorphism 'GG' homozygous genotype difference was statistically significant between the dry-type ARMD and control groups (p˂0,05). There was no statistical difference between the groups in terms of G or A allele distribution for the Apo A1 gene rs5069 SNP (p>0.05). Conclusion: Apo A1 gene rs1799837 polymorphism was found to be significantly higher in the dry-type ARMD and wet-type ARMD groups, and the Apo A1 gene rs5069 polymorphism was significantly higher in the dry-type ARMD group compared to control group. These findings show that there may be a relationship between polymorphisms and the increased risk of ARMD. Keywords: Apo A1, Age-Related Macular Degeneration, HDL, rs1799837, rs5069