IL-13 rs20541 (R130Q) Single Nucleotide Polymorphism in a Sample of Egyptian Children Suffering from Idiopathic Nephrotic Syndrome

EL-Melouk, Marwa Seif; Sobeih, Ahmed Ata; Osman, Maha Mamdouh; Abd AL-Hamid, Hasnaa Shawky

doi:10.21608/ejmm.2023.277770

IL-13 rs20541 (R130Q) Single Nucleotide Polymorphism in a Sample of Egyptian Children Suffering from Idiopathic Nephrotic Syndrome

Document Type : New and original researches in the field of Microbiology.

Authors

¹ Medical Microbiology and Immunology Department, Faculty of Medicine, Benha University, Benha, Egypt.

² Pediatric Department, Faculty of Medicine, Benha University, Benha, Egypt.

³ Clinical and chemical pathology, Faculty of medicine, Helwan University, Egypt.

10.21608/ejmm.2023.277770

Abstract

Background: Idiopathic nephrotic syndrome (INS) is the most frequent glomerular disease affecting children. Its pathogenesis is not completely evident, it is probably due to immunological disturbance that increases cytokines production and alters the glomerular permeability. Interleukin 13 (IL-13) has been implicated in INS pathogenesis by changing the permeability of the glomerular basement membrane and inducing proteinuria. Objective: To investigate the association between rs20541 (R130Q) single nucleotide polymorphism (SNP) in IL-13 gene, idiopathic nephrotic syndrome susceptibility and steroid treatment response in Egyptian children. Methodology: This cross sectional case-control study was performed on 50 INS children aged 2-15 years following up in the Nephrology Unit of the Pediatric department at Benha University Hospitals and 50 healthy age and sex matched children as controls. All candidates were subjected to clinical evaluation. Genotyping of the selected SNP was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: A highly significant frequency of GA genotype, p=0.017, OR= 1.933 (1.126-3.319) and AA genotype, p=0.001, OR=6.660 (2.283-19.433) as well as A allele, p<0.001, OR=2.281(1.551-3.354) were observed in the INS patients with a higher significant frequency of AA type p=0.013, OR=3.660 (1.308-10.238) and A allele, p=0.009, OR=1.947 (1.178-3.218) in steroid resistant patients. Conclusion: The results showed that IL-13 polymorphism (rs20541) seems to play a role in the pathogenesis of INS. The A allele is a risk factor for the disease and moreover, it has a relation to steroid responsiveness.

Keywords