The impact of catalase and glutathione peroxidase-1 genetic polymorphisms on their enzyme activities among Egyptian patients with keratoconus

Faculty Medicine Year: 2020
Type of Publication: ZU Hosted Pages:
Authors:
Journal: the journal of gene medicine international Volume:
Keywords : , impact , catalase , glutathione peroxidase-1 genetic polymorphisms , their    
Abstract:
Abstract Background: Elevated oxidative stress plays a significant role in pathophysiology of keratoconus (KC). Polymorphisms of the antioxidant enzymes as CAT and GPX-1 might alter their antioxidant enzyme capacities leading to increase in the oxidative damage induced KC. Aim: To analyze the impact of CAT rs7943316 A/T and GPX-1 rs1050450 C/T single nucleotide polymorphisms (SNPs) on the risk and severity of KC among a group of Egyptian population. Subject & methods: CAT rs7943316 and GPX-1 rs1050450 SNPs were examined using polymerase chain reaction-restriction fragment length polymorphism in 100 control subjects and 150 KC patients [50 patients (KC stages 1&2), 50 patients (KC stage 3) and 50 patients (KC stage 4)]. Results: Patients with TT genotype of CAT rs7943316 were at high risk of developing KC. T allele of GPX-1 rs1050450 was significantly associated with KC risk (P <0.001). The frequency of CAT TT genotype and T allele was significantly higher among severe stages of KC compared to mild and moderate stages. GPX-1 T allele frequency was significantly higher among severe stages of KC compared to mild and moderate stages. A very significant decrease in the antioxidant enzyme activities was observed in association with these SNPs. Age of the patients, CAT and GPX-1 SNPs as well as their enzyme activities were independent predictors of KC severity.
   
     
 
       

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