Role of matrix metalloproteinase-9 gene polymorphisms in glaucoma: A hospital-based study in Chinese patients

Fengqiong Zhao1, Zongshan Fan1, Xuewen Huang1

  • 1Department of Ophthalmology, Nanchong Central Hospital, Nanchong, China.

Abstract

Insights

Common variants of matrix metalloproteinase-9 (MMP-9) are linked to glaucoma development in the Chinese population. Specific MMP-9 gene mutations correlate with elevated protein levels, increasing glaucoma risk.

Area of Science:

  • Ophthalmology
  • Genetics
  • Biochemistry

Background:

  • Glaucoma is a leading cause of irreversible blindness globally.
  • Matrix metalloproteinase-9 (MMP-9) plays a role in extracellular matrix remodeling and has been implicated in glaucoma.
  • Previous studies suggest associations between MMP-9 variants and glaucoma in various populations.

Purpose of the Study:

  • To investigate the association of common MMP-9 gene variants with different clinical subtypes of glaucoma in the Chinese population.
  • To determine if specific MMP-9 polymorphisms correlate with plasma MMP-9 levels.

Main Methods:

  • Genotyping of five common MMP-9 single nucleotide polymorphisms (SNPs) using PCR-RFLP in 396 glaucoma patients (212 PACG, 184 POAG) and 329 healthy controls.
  • Quantification of plasma MMP-9 levels using ELISA.

Main Results:

  • The rs2250889 polymorphism (allele G) and rs17576 variant were significantly more frequent in both primary angle-closure glaucoma (PACG) and primary open-angle glaucoma (POAG) cases compared to controls.
  • The rs3918242 polymorphism was more prevalent in POAG cases than in controls.
  • Significant associations were found between MMP-9 polymorphisms (rs2250889, rs3918242, rs17576) and plasma MMP-9 levels.

Conclusions:

  • Specific MMP-9 gene variants are associated with an increased risk of developing glaucoma in the Chinese population.
  • These MMP-9 variants are linked to elevated plasma MMP-9 levels, suggesting a mechanism for glaucoma predisposition.

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