NR3C1 gene polymorphisms in adult patients with nephrotic syndrome

Abstract

Introduction: Glucocorticoids therapy is a selective treatment strategy for cases with nephrotic syndrome (NS). Objectives: Due to the lack of positive response of all patients to therapy and the dependency of biological effects of glucocorticoids on its receptors (GR), here, the association of the NR3C1 gene (N363S, BclI, GR-9β, and ER22/23EK) polymorphisms with the response to glucocorticoids was investigated in patients with NS. Patients and Methods: In this study, 55 patients with primary NS including 29 steroid-responder (SS) and 26 steroid-resistant (SR) and also 30 healthy individuals were recruited. The polymorphisms of NR3C1 gene were studied by PCR and sequencing of the amplified fragments and the results were compared between the groups. Results: A3669 SNP was observed in 8.7% (n=2) of patients with SRNS and 6.3% (n=2) of responders (P=0.560). In 40.7% of steroid-responsive patients (n=11) and 21.4% of patients with SRNS (n=6), BclI polymorphism was detected that was not statistically significant (P=0.098). The N363S and ER22/23EK polymorphisms were not detected in the studied groups. No significant differences were observed between the frequency of the studied polymorphisms between the different subtypes of NS; focal and segmental glomerulosclerosis (FSGS), membranous glomerulonephritis (MGN), and control group. Conclusion: The NR3C1 gene N363S, BclI, GR-9β, and ER22/23EK polymorphisms do not affect the steroid responsiveness and the pathogenesis of NS in Azari adult patients with primary NS. Other polymorphisms within NR3C1 gene need to be explored in large cohorts.