Association of Matrix Metalloproteinase-9 (MMP9) Variants with Primary Angle Closure and Primary Angle Closure

Xueli Chen1,2, Yuhong Chen1, Janey L Wiggs2

  • 1Department of Ophthalmology & Vision Science, Eye & Ear Nose Throat Hospital, Shanghai Medical College, Fudan University, Shanghai, China.

Plos One
|June 9, 2016
PubMed

Insights

Genetic variants in matrix metalloproteinase-9 (MMP9) were investigated for their role in primary angle closure glaucoma (PACG). This large study found no significant association between common MMP9 variants and PACG in the Chinese population.

Area of Science:

  • Ophthalmology
  • Genetics
  • Glaucoma Research

Background:

  • Primary angle closure glaucoma (PACG) is characterized by shorter axial length, potentially linked to matrix metalloproteinase-9 (MMP9) activity and extracellular matrix (ECM) remodeling during ocular development.
  • Understanding the genetic basis of PACG is crucial for developing targeted therapies and improving patient outcomes.

Purpose of the Study:

  • To investigate the association between common variants in the MMP9 gene and the risk of PACG in a Chinese cohort.
  • To evaluate previously reported associations of MMP9 variants with PACG using meta-analysis.

Main Methods:

  • Genotyping of six tag single nucleotide polymorphisms (SNPs) in the MMP9 gene was performed in 1,030 cases (572 PACG, 458 primary angle closure [PAC]) and 499 controls.
  • Meta-analysis was conducted, combining the current study's data with previously published studies, including both Chinese and non-Chinese populations.

Main Results:

  • None of the six genotyped MMP9 SNPs showed a significant association with PAC/PACG in the Chinese cohort.
  • Meta-analysis of Chinese datasets did not replicate previously reported associations for rs17576 and rs3918249.
  • A nominal association was observed for rs17577 with PAC/PACG in an overall meta-analysis (ORs = 1.26, Pc = 0.05), but this was not consistently significant across all analyses.

Conclusions:

  • The study did not find significant evidence supporting a role for common MMP9 variants in PACG development within the Chinese population.
  • Heterogeneity between Chinese and non-Chinese datasets limited the scope of overall meta-analyses.
  • Further research is warranted to fully elucidate the potential contribution of MMP9 genetic variants to PACG pathogenesis.

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