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MMP-2 Rs24386 (C-->T) gene polymorphism and the phenotype of age-related macular degeneration

Rasa Liutkeviciene1,2, Vaiva Lesauskaite3, Giedre Sinkunaite-Marsalkiene3

  • 1Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Kaunas LT-50161, Lithuania.

International Journal of Ophthalmology
|September 26, 2017
PubMed
Abstract

Insights

The MMP-2 (-1306 C/T) gene polymorphism, specifically the C/C genotype, is linked to an increased risk of developing hard drusen in age-related macular degeneration (AMD) patients. This finding may aid in understanding AMD progression.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss.
  • Drusen, lipid deposits under the retina, are key indicators of AMD.
  • Understanding genetic factors influencing AMD phenotypes is crucial for early detection and treatment.

Purpose of the Study:

  • To investigate the association between the MMP-2 (-1306 C/T) gene polymorphism and the presence of soft and hard drusen in early AMD.
  • To examine the relationship between this polymorphism and geographic atrophy in late AMD.

Main Methods:

  • Genotyping of the MMP-2 Rs243865 (C-->T) polymorphism using real-time polymerase chain reaction.
  • Analysis included 850 participants: 290 AMD patients and 526 controls.
  • Statistical analysis adjusted for age and sex.

Main Results:

  • The MMP-2 (-1306 C/C) genotype was significantly more frequent in AMD patients with hard drusen compared to those with soft drusen or controls (P=0.047).
  • Logistic regression indicated that the MMP-2 (-1306 C/C) genotype increases the likelihood of developing hard drusen (OR=1.7, P=0.028).
  • No significant association was found between the MMP-2 (-1306 C/T) polymorphism and atrophic AMD.

Conclusions:

  • The MMP-2 Rs24386 (C-->T) polymorphism is associated with the development of hard drusen in patients with AMD.
  • This genetic variant may play a role in the specific phenotypic manifestation of AMD.
Keywords:
age-related macular degenerationgene polymorphismmatrix metalloproteinasesphenotype

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