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

Rasa Liutkeviciene1, Vaiva Lesauskaite, Giedre Sinkunaite-Marsalkiene

  • 1Department of Ophthalmology, Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy , Kaunas , Lithuania .

Ophthalmic Genetics
|October 2, 2013
PubMed
Abstract

Insights

The MMP-9 Rs3918242 (C->T) single nucleotide polymorphism is linked to an increased risk of developing early age-related macular degeneration (AMD). This association was particularly evident in individuals under 65 years old.

Area of Science:

  • Genetics and Ophthalmology
  • Molecular Biology and Disease Mechanisms

Background:

  • Matrix metalloproteinases (MMPs) are crucial enzymes involved in extracellular matrix degradation.
  • MMPs play significant roles in both normal tissue remodeling and pathological conditions.

Purpose of the Study:

  • To investigate the association between specific single nucleotide polymorphisms (SNPs) in MMP-2, MMP-3, and MMP-9 genes and the development of early age-related macular degeneration (AMD).
  • The study focused on MMP-2 Rs2285053 (C->T), MMP-3 Rs3025039 (5A->6A), and MMP-9 Rs3918242 (C->T) polymorphisms.

Main Methods:

  • Genotyping of MMP-2, MMP-3, and MMP-9 SNPs was performed using real-time polymerase chain reaction (PCR).
  • The study included 148 patients diagnosed with AMD and 526 individuals in the control group.

Main Results:

  • No significant difference in genotype frequencies for MMP-2 and MMP-3 SNPs was observed between AMD patients and controls.
  • The MMP-9 Rs3918242 (C->T) polymorphism, specifically the C/C genotype, was found more frequently in AMD patients (73.7%) compared to controls (64.6%).
  • Logistic regression indicated that the MMP-9 (-1562) C/C genotype increased the likelihood of developing early AMD (OR=1.51).

Conclusions:

  • The MMP-9 Rs3918242 (C->T) SNP is significantly associated with the development of early age-related macular degeneration (AMD).
  • The risk associated with the MMP-9 C/C genotype was more pronounced in individuals younger than 65 years.
Keywords:
Age-related macular degenerationgene polymorphismmatrix metalloproteinases

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