The Role of Matrix Metalloproteinases Polymorphisms in Age-Related Macular Degeneration

Background: Matrix metalloproteinases (MMP) are responsible for the degradation of extracellular matrix components and play an important role in the physiological and pathological remodeling of tissues. Purpose: To assess the impact of MMP-2 Rs2285053 (C -> T), MMP-3 Rs3025039 (5A -> 6A), and MMP-9 Rs3918242 (C -> T) single nucleotide polymorphism on the development of early age-related macular degeneration (AMD). Methods: The study group comprised 148 patients with AMD, and the control group enrolled 526 randomly selected persons. The genotyping of MMP-3 Rs3025039, MMP-2 Rs2285053, and MMP-9 Rs3918242 was performed by using the real-time PCR method. Results: The frequency of the MMP-2 (-735) C/T and MMP-3 (-1171) 5A/6A genotypes did not differ significantly between the patients with AMD and the control group, while the MMP-9 (-1562) C/C genotype was more frequently detected in patients with AMD than the control group (73.7% vs. 64.6%, p = 0.048). Logistic regression analysis showed that the MMP-9 (-1562) C/C genotype increased the likelihood of developing early AMD (OR=1.51, 95% CI: 1.01-2.21; p=0.046). After the subdivision into the groups by age, a significant difference only in the frequency of the MMP-9 (-1562) C/C genotype was found comparing the AMD patients and the control group younger than 65 years (79.7% vs. 66.4%, p = 0.039). Conclusions: Only MMP-9 Rs3918242 (C -> T) single nucleotide polymorphism was found to play a significant role in the development of AMD, and the effect was more pronounced at the age of less than 65 years.