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Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure

Shazia Micheal1, Sajeela Yousaf, Muhammad Imran Khan

  • 1Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan. shaziamicheal@gmail.com

Molecular Vision
|February 27, 2013
PubMed
Abstract

Insights

Genetic variations in MMP1 and MMP9 may be linked to glaucoma in Pakistani women and men, respectively. Further research is recommended to explore these potential gender-dependent risk factors for primary open-angle glaucoma and primary angle closure glaucoma.

Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Matrix metalloproteinases (MMPs) are crucial for extracellular matrix remodeling in ocular tissues.
  • Functional polymorphisms in MMP genes have been associated with glaucoma pathogenesis.
  • Understanding genetic predispositions is vital for glaucoma management.

Purpose of the Study:

  • To investigate the association of specific matrix metalloproteinase gene polymorphisms with glaucoma in a Pakistani population.
  • To explore potential gender-specific roles of these polymorphisms in primary open-angle glaucoma (POAG) and primary angle closure glaucoma (PACG).

Main Methods:

  • A case-control study involving 112 POAG patients, 82 PACG patients, and 118 controls.
  • Genotyping of MMP polymorphisms (MMP1 rs1799750, MMP7 c.-181T>C, MMP9 rs17576, MMP9 c.-1562C>T) using PCR and RFLP analysis.
  • Gender stratification was performed for association analyses.

Main Results:

  • MMP1 rs1799750 polymorphism showed a significant association with POAG, particularly in female patients (p < 0.001).
  • MMP9 rs17576 polymorphism was significantly associated with PACG, especially in male patients (p = 0.009).
  • No significant associations were found for MMP7 (c.-181T>C) and MMP9 (c.-1562C>T) polymorphisms.

Conclusions:

  • MMP1 rs1799750 and MMP9 rs17576 polymorphisms may serve as potential gender-dependent risk factors for POAG and PACG in the Pakistani population.
  • These findings warrant further investigation to elucidate the precise mechanisms and clinical implications.
  • Genetic screening for these polymorphisms could aid in identifying individuals at higher risk for specific glaucoma types.

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