Association of GSTO1, GSTO2, GSTP1, GPX1 and SOD2 polymorphism with primary open angle glaucoma

Exp Eye Res. 2022 Jan:214:108863. doi: 10.1016/j.exer.2021.108863. Epub 2021 Nov 24.

Abstract

It is becoming increasingly evident that oxidative stress has a supporting role in pathophysiology and progression of primary open angle glaucoma (POAG). The aim of our study was to assess the association between polymorphisms in genes encoding enzymes involved in redox homeostasis, mitochondrial superoxide dismutase (SOD2), glutathione peroxidase (GPX1) and glutathione transferases (GSTs) with susceptibility to POAG. Single nucleotide polymorphisms in GST omega (GSTO1rs4925, GSTO2 rs156697), pi 1 (GSTP1 rs1695), as well as GPX1 (rs1050450) and SOD2 (rs4880) were determined by quantitative polymerase chain reaction (qPCR) in 102 POAG patients and 302 respective controls. The risk for POAG development was noted in carriers of both GSTO2*GG and GSTO1*AA variant genotypes (OR = 8.21, p = 0.002). Individuals who carried GPX1*TT and SOD2*CC genotypes had also an increased risk of POAG development but without significance after Bonferroni multiple test correction (OR = 6.66, p = 0.005). The present study supports the hypothesis that in combination, GSTO1/GSTO2, modulate the risk of primary open angle glaucoma.

Keywords: Glutathione peroxidase 1; Glutathione transferases omega 1; Glutathione transferases omega 2; Glutathione transferases pi 1; Primary open angle glaucoma; Superoxide dismutase 2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotyping Techniques
  • Glaucoma, Open-Angle / diagnosis
  • Glaucoma, Open-Angle / genetics*
  • Glutathione Peroxidase / genetics*
  • Glutathione Peroxidase GPX1
  • Glutathione S-Transferase pi / genetics*
  • Glutathione Transferase / genetics*
  • Humans
  • Intraocular Pressure / physiology
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • Real-Time Polymerase Chain Reaction
  • Superoxide Dismutase / genetics*

Substances

  • Glutathione Peroxidase
  • Superoxide Dismutase
  • superoxide dismutase 2
  • GSTO1 protein, human
  • GSTO2 protein, human
  • GSTP1 protein, human
  • Glutathione S-Transferase pi
  • Glutathione Transferase
  • Glutathione Peroxidase GPX1
  • GPX1 protein, human