Investigation of specific variants of HIF1A, TGFA and TGFB3 genes in the development of age related macular degeneration

Aim: To evaluate the association between AMD and spesific variants of the HIF1A, TGFA and TGFB3 genes. Material and Method: In this prospective, cross-sectional study, 83 patients with wet AMD, 39 patients with dry AMD and 68 age- and sex-matched patients as a control group were examined in Inonu University Faculty of Medicine, Department of Ophthalmology between March 2020 and March 2021. A complete eye examination was performed in all cases. The diagnosis of AMD was made according to complete ophthalmologic examination, optical coherence tomography and fundus fluorescein angiography findings. 2 ml of peripheral venous blood sample was taken into an EDTA blood tube for DNA isolation from each case. HIF1A gene rs11549465 and rs11549467 variant, TGFA gene rs2166975 and rs1058213 variants and TGFB3 gene IVS5+104AG variant were investigated by PCR-RFLP method. Results: The mean age of the subjects included in the study was 70,9 ± 5,91 years in the wet AMD group, 70,59 ± 6,87 years in the dry AMD group, and 69,4 ± 5,56 years in the control group (p>0,05). There were 51 (61,4%) men and 32 (38,6%) women in the wet AMD group, 23 (59,0%) men and 16 (41,0%) women in the dry AMD group, 39 (57,4%) men and 29 (42,6%) women in the control group (p>0,05). The median BCVA values of the eyes included in the study were 1,3 logMAR (0,05 – 3,10) in the wet AMD group and 0,52 logMAR (0,00 – 3,10) in the dry AMD group and 0,15 logMAR (0,00 – 1,30) in the control group (p<0,05). Median BCVA was worst in wet AMD, but highest in the control group. Statistically significant difference was found between the groups for genotypes specific to the HIF1A gene rs11549465 and TGFB3 gene IVS5+104AG polymorphisms. There was no statistical difference between the groups for the TGFA gene rs2166975 and rs1058213 polymorphisms. HIF1A gene rs11549467 polymorphism was not observed in any of the cases. Conclusion: HIF1A gene rs11549465 variant and TGFB3 gene IVS5+104AG variant were detected more frequently in wet and dry AMD groups compared to the control group. This result suggests that these variants may be associated with an increased risk of AMD. Keywords: Age Related Macular Degeneration, HIF1A, TGFA, TGFB3