Glutathione Peroxidase and Catalase Gene Polymorphism in Pakistani Cataract Patients

Abstract

Introduction: Cataract is the major cause of blindness and visual impairment. Although there are several reasons for the generation of cataract, however, most of the cases are due to inter-individual genetic variations in antioxidant genes. Many studies have been conducted for the understanding of the role of reactive oxygen species (ROS) in the regulation of cataract. However, the study of single nucleotide polymorphisms (SNP) of the Glutathione peroxidase gene and Catalase gene and its association with cataract is still lacking in the Pakistani population. Objective: To investigate the relationship between GPX and CAT gene variations and the development of Cataract in Pakistani cataract patients. Methods: This was a case-control study carried out at different centres in Karachi, Pakistan between September 2019 and 2020. A single nucleotide polymorphism (SNP) at rs1050450 for GPX and rs7943316locus for Catalase gene mutations was examined with polymerase chain reaction (PCR) using high resolution melting curve (HRM) technique in 250 cataract patients and 250 healthy control groups of similar age. Results: We detected the ratio of SNP in GPX gene in cataract patientsis higher than in control (OR: 1.8, 95% CI) while there is no significant difference in CAT gene between cataract and control participants. Conclusion: Our findings indicate potential genetic variations in antioxidant genes particularly GPX and CAT genes polymorphisms as risk factors for cataract. This is study the first studyto report the antioxidant SNPs associated with the developmentof cataract in the Pakistani population.