Genetic Variation in SOD1Gene Promoter Ins/Del and Its Influence on Oxidative Stress in Beta Thalassemia Major Patients

A genetic polymorphism of 50 bp insertion/deletion (Ins/Del) (rs 36232792) in the promoter region of the SOD1 was reported to influence the enzyme activity. The aims of the present study are to evaluate the status of this polymorphism on the SOD1 levels in human peripheral blood cells and its association with risk of oxidative stress in beta thalassemia major patients.

The study was carried out on 200 thalassemia major patients and 200 healthy controls healthy. The SOD1 genotypes were determined using a polymerase chain reaction (PCR)-based method. Serum SOD activity were assessed using SOD assay kit. In-silico analysis was assessed using loss-of-function (LofTool) (PMID: 27563026).

No association was found between the insertion/deletion (Ins/Del) polymorphism of SOD1 and risk of oxidative stress in thalassemia major patients

The results of this study indicated that the oxidative sterss is not affected by the Ins/ Del polymorphism of SOD1 in thalassemia major patients. Further research with larger samples size and with other genes of antioxidant system is required.