Purpose: Age-related macular degeneration (AMD) is a disease of the macula that significantly affects eyesight and leads to irreversible central vision loss. Recent studies have demonstrated that angiogenesis is the most important mechanism of AMD development. It is associated with extracellular remodeling involving different proteolytic systems, among them matrix metalloproteinases (MMPs), which play an essential role in the etiopathogenesis of AMD. The main objective of the present study was to determine the relationship between exudative AMD and MMP-2 (-1306 C/T) rs243865 polymorphism.
Methods: The study enrolled 267 patients with exudative AMD and 318 controls. DNA was extracted from peripheral venous blood leukocytes by commercial kits. Genotyping of MMP-2 (-1306 C/T) rs243865 was carried out using real-time polymerase chain reaction method.
Results: The analysis of MMP-2 (-1306 C/T) polymorphism did not reveal any differences in the distribution of CC, CT, and TT genotypes between the exudative AMD and control groups: 58.8%, 31.5% and 9.7% vs. 59.75%, 33.96% and 6.29%, respectively, P = 0.287). When the study population was subdivided into age groups, MMP-2 (-1306 C/T) rs243865 CT genotype showed 5.7-fold increased the risk of exudative AMD development compared to CC and TT genotypes together in younger (<65 years) males group (P = 0.05).
Conclusion: MMP-2 (-1306 C/T) polymorphism is associated with exudative AMD development in younger males.
Keywords: Exudative age-related macular degeneration; gene polymorphism; matrix metalloproteinases.