The protective role of the -735C/T and the -1306C/T polymorphisms of the MMP-2 gene in the development of primary open-angle glaucoma

Ophthalmic Genet. 2014 Mar;35(1):41-6. doi: 10.3109/13816810.2013.800892. Epub 2013 May 31.

Abstract

Background: It has been suggested that the matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) are involved in the degradation of extracellular matrix components, resulting in ocular tissue damage. The -735C/T and -1306C/T polymorphisms recognized in the promoter region of the MMP-2 gene resulting in its expression level were investigated in association with the development of primary open-angle glaucoma (POAG) in a Polish population.

Methods: DNA samples collected from 271 patients with POAG and 281 healthy controls were used in this study. Polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Clinical parameters of the rim area (RA) and retinal neuron fiber layer (RNFL) were also analyzed.

Results: We found that the -735C/T and -1306C/T polymorphisms of MMP-2 were not associated with a risk of POAG. However, both the -735T/T (OR = 0.18 (0.04-0.92) p = 0.03) and the -1306T/T (OR = 0.14 (0.03-0.67) p = 0.007) genotypes of MMP-2 were significantly associated with the rim area factor in early stage of POAG suggesting its protective role in the disease progression.

Conclusion: Finally, our data suggest that gene polymorphisms of MMP-2 may have a protective role in the progression of primary open-angle glaucoma in a Polish population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • DNA Mutational Analysis
  • DNA Primers
  • Female
  • Gene Frequency
  • Genotype
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Intraocular Pressure
  • Male
  • Matrix Metalloproteinase 2 / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic / genetics

Substances

  • DNA Primers
  • Matrix Metalloproteinase 2