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Role of functional single nucleotide polymorphisms of MMP1, MMP2, and MMP9 in open angle glaucomas

Georg Mossböck1, Martin Weger, Christoph Faschinger

  • 1Department of Ophthalmology, Medical University of Graz, Graz, Austria. g.mossboeck@medunigraz.at

Molecular Vision
|September 3, 2010
PubMed
Abstract

Insights

Genetic variations in MMP1, MMP2, and MMP9 are not significant risk factors for primary open angle glaucoma (POAG) or exfoliation glaucoma (XFG) in Caucasian populations. Further research is needed to identify other genetic contributors to these complex eye conditions.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Matrix metalloproteinases (MMPs) are crucial for extracellular matrix remodeling and cellular functions.
  • Specific MMPs (MMP1, MMP2, MMP9) and their functional gene polymorphisms have been investigated for roles in primary open angle glaucoma (POAG) and exfoliation syndrome (XFG).

Purpose of the Study:

  • To investigate the association between specific MMP gene polymorphisms (MMP1 -1607 1G/2G, MMP2 -1306 C/T, MMP2 -1575 G/A, MMP9 Q279R) and the risk of developing POAG and XFG in a Caucasian cohort.
  • To determine if these MMP polymorphisms act as risk factors for POAG and XFG.

Main Methods:

  • A case-control study was conducted with 322 POAG patients, 202 XFG patients, and 248 control subjects.
  • Genotyping of the selected MMP polymorphisms was performed using polymerase chain reaction (PCR).

Main Results:

  • No statistically significant differences in genotype distributions or allelic frequencies were observed for any of the studied MMP polymorphisms between POAG patients and controls.
  • Similarly, no significant differences were found between XFG patients and controls for the investigated MMP polymorphisms.
  • The studied MMP polymorphisms did not predict the presence of POAG or XFG.

Conclusions:

  • The investigated MMP gene polymorphisms (MMP1 -1607 1G/2G, MMP2 -1306 C/T, MMP2 -1575 G/A, MMP9 Q279R) are unlikely to be major genetic risk factors for POAG or XFG in the Caucasian population studied.
  • These findings suggest that other genetic or environmental factors likely play a more significant role in the pathogenesis of these glaucoma types.

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