abstract
- © 2020 Sociedad Mexicana de Oftalmología. Publicado por Permanyer. Este es un artículo open access bajo la licencia CC BY-NC-ND (http://creativecommons.org/licenses/by-nc-nd/4.0/).Introduction: The wet form of age-related macular degeneration (WAMD) is related to the expression of vascular endothelial growth factor (VEGF). Several single nucleotide polymorphisms (SNPs) in the VEGF gene are associated with different expression patterns of this cytokine (functional polymorphisms). In this study, we considered 4 SNPs that are located in the promoter region (rs699947 A/C, rs833061 C/T, rs1005230 C/T and rs1570360 A/G) and two in the 5' untranslated region (rs2010963 C/G and rs25648 C/T) that have an effect on transcriptional regulation. Objective: To associate functional SNPs with WAMD in a Mexican population. Methods: Through allelic discrimination assays, consisting in polymerase chain reactions with Taqman probes, the polymorphisms were genotyped. Genotype frequencies were compared using all inheritance models. Results: SNPs were genotyped in 105 patients diagnosed with WAMD (61 women and 44 men, mean age 74.28 ± 8.32 years), and in 102 healthy control subjects (61 women and 41 men, mean age 67.41 ± 5.78 years). Genotypes in both groups were in Hardy-Weinberg equilibrium. In all SNPs analyzed, the minor allele frequency was statistically significant different between the groups. Genotypes were not statistically significant different between the WAMD and the control groups (p > 0.05). Conclusion: No association was observed between the studied SNPs and the presence of WAMD in the analyzed Mexican population. We consider that further analysis in larger samples is necessary to confirm these findings.