Work

50-bp Ins/Del polymorphism of SOD1 is associated with increased risk of beta-thalassemia patients

Year: 2024

Type: article

Abstract: Aims: This study investigates how polymorphism functions in human peripheral blood cells and its linkage to the SOD enzyme activity in beta-thalassemia .Methodology and results: 50-bp in the insertion and deletion (Ins/Del) polymorphism were discovered in the promoter (rs 36232792).The affected SOD1 region played a role in the enzyme activity.Fifty people with thalassemia and fifty healthy people participated in the study.According to the current study, SOD1 in Ins/Del were found and polymorphism were linked to SOD1 expression levels.However, it was not linked to thalassemia risk.Furthermore, no link has been discovered in thalassemia patients compared to the insertion/deletion found as polymorphism and SOD enzyme activity.Conclusion, significance and impact of study: The Del allele (SOD1 50 bp Ins/Del) is more common in thalassemia patients at a rate of 38% in cases and 40% in controls.It is significant with OR=0.49540.1735 to 1.4142, 95% confidence interval.In comparison, the SOD1 Ins/Del polymorphism is linked to SOD1 expression levels and is not the only factor.

Source: Malaysian Journal of Microbiology

DOI: 10.21161/mjm.240055

Authors: Salih, I. A. A., Tolaifeh, Z. A., Kamal, S. A.

Institution: University of Babylon

Language: English

Topic: Hemoglobinopathies and Related Disorders

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $110