• Association between genetic polymorphisms of GPX1 C594T and GPX4 C718T with the risk of age-related macular degeneration
  • Iraj Saadat,1,* Zahra Saberikia,2
    1. PhD, Department of Biology, Faculty of Science, Shiraz University, Shiraz, Iran
    2. MSc, Department of Biology, Faculty of Science, Shiraz University, Shiraz, Iran


  • Introduction: Age-related macular degeneration (AMD) is a progressive disease resulting in loss of vision. medical articles known as: "Diseases That Occur in the Elderly. This disease is caused by the destruction of the retina generally in people over 55 years of age and as the disease progresses it leads to blindness. There are many environmental and genetic factors involved in this disease. These include age, gender, race, diet, smoking, UV light, oxidative stress, and cardiovascular disease.One of the important factors in AMD disease is oxidative stress. Excessive accumulation of ROS and the inability of the antioxidant defense system to neutralize it can contribute to the development of lesions. One of the antioxidant enzymes is glutathione peroxidase. The aim of this study was to investigate the relation between genetic polymorphisms of GPX1 C594T and GPX4 C718T with the risk of AMD disease.
  • Methods: Our case-control study included 122 AMD patients (75 male, 47 female) selected from the Department of Ophthalmology, Khalili Hospital, Shiraz (South Iran) and 122 controls (70 male, 52 female) randomly selected from healthy blood donors. Iranian population is one of the most heterogeneous populations. Therefore, we selected our patients and controls from the same ethnicreligious group (Persian Muslims living in Fars province, southern Iran). Subjects were divided into two groups according to occupation: outdoor (farmers, drivers, etc.) and indoor (housewives, teachers, etc.). The genomic DNA was extracted from the whole blood samples. The restriction fragment length polymorphism (PCR-RFLP) assay was used to determine the genotype for GPX1 C594T (rs1050450) and GPX4 C718T (rs713041) polymorphisms. PCR products of GPX1 C594T and GPX4 C718T polymorphisms were digested with restriction enzyme Apa I and Sty I , respectively.After digestion, DNA products were analyzed by 3% agarose gel electrophoresis.
  • Results: The association between smoking and AMD was found in this study (OR=2.165, CI=1.145 - 4.092, p=0.017). The place of work (outdoor) significantly increased the risk of AMD (OR=2.067, CI=1.168-3.659, p=0.013) . The CC, CT, and TT genotype frequencies for GPX1 were 42.5%, 43.4%, and 13.3% in controls and 44.3%, 43.4%, and 12.3% in cases, and for GPX4 were 19.7%, 49.2%, and 28.7% in controls and 27.0%, 44.3%, and 27.9% in cases, respectively. There was no significant association between the genotypes of GPX1 C594T (TT vs. CC, OR=0.84, 95%CI=0.36- 1.95, P=0.693) and GPX4 C718T (TT vs. CC, OR=0.64, 95%CI=0.30- 1.35, P=0.247) and susceptibility to AMD
  • Conclusion: It was expected that AMD would be associated with SNPs in antioxidant genes because AMD is significantly associated with oxidative stress and oxidative stress scavenged by antioxidant enzymes. It has already been shown that AMD is associated with some genetic variations in genes involved in antioxidant pathways. Previous studies with some antioxidant genes showed that a significant decrease in enzymes SOD, CAT and GPX in AMD patients compared to controls, was indicated. The current study suggested that the GPX1 C594T (rs1050450) and GPX4 C718T (rs713041) polymorphisms are not predisposing to AMD.
  • Keywords: Age related macular degeneration (AMD), GPX1, GPX4, Polymorphism