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

Abstract

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.

• Age-related macular degeneration
• gene polymorphism
• matrix metalloproteinases

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Financial support was received from the Lithuanian Science Council (grant no. MIP-10330) and Wellcome Trust (grant no. 064947/Z/01/Z); the US National Institute on Aging (grant no. IR0I AG23522-01), the MacArthur Foundation (Health and Social Upheaval network); Oslo University College (grant no. 57116).