Evaluation of steroid resistance polymorphisms of NR3C1 gene in patients with nephrotic syndrome

Abstract

Nephrotic syndrome (NS) is a glomerular disease characterized by severe proteinuria, hypoalbuminemia, hypercholesterolemia, and edema. The reason for proteinuria in NS is the deficiency in the structure or function of Glomerule arterioles. Glucocorticoid (GC) therapy is a selective treatment strategy for patients with nephrotic syndrome. Due to the lack of positive response of all patients to GC treatment and resistance to GC therapy, as well as the dependency of biological effects of GC on cytoplasmic receptors of glucocorticoids (GR) and the role of gene encoding on these receptors (NR3C1), on GR tendency to glucocorticosteroids, In this study, we investigated that the resistance polymorphisms to the steroid of NR3C1 gene in patients with nephrotic syndrome and also, their relationship with patients' clinical parameters. Methods: For this case-control study, blood samples were collected from 53 patients with nephrotic syndrome who were selected based on biopsy results, referred to Imam Reza (AS) Hospital in Tabriz and also, 30 healthy individuals with no nephrotic syndrome. Then the DNA of all samples was extracted and by the PCR and DNA sequencing technique, the single nucleotide polymorphisms of ER22 / 23EK and GR-9β of NR3C1 gene were determined and compared between the control and patient groups. Results: Based on the results of gene sequencing, no significant difference was observed between the frequency of ER22 / 23EK and GR-9β polymorphisms of the NR3C1 gene in the patient group including nephrotic syndrome, membranous glomerulonephritis, and ovarian disease and the control group.