Data for: Endothelin-1 rs5370 gene polymorphism among children with primary nephrotic syndrome: A single center study.

Published: 12 October 2020| Version 3 | DOI: 10.17632/93v72hcjxd.3


Hypothesis: Primary nephrotic syndrome is a common renal pediatric disorder. We investigated allelic frequencies and genotypes of Endothelin (EDN1) rs5370 polymorphism among children with primary NS. Methods: A case control study was conducted in Mansoura University Children’s Hospital, Egypt during the period from December 2015 to January 2018. We included 50 steroid sensitive NS (SSNS) and 50 steroid resistant NS (SRNS) in addition to 100 healthy controls. All patients were assessed clinically and investigated for serum albumin, cholesterol, creatinine and urea, and 24-h urinary protein. We investigated all groups for EDN1 rs5370 genotypes (GG, GT and TT) and alleles (G and T) using polymerase chain reaction amplification-refractory mutation system. We used chi-square test to verify agreement of allelic frequencies and genotypes of EDN1 rs5370 polymorphism with Hardy–Weinberg equilibrium (p ˃ 0.05 for each group). We used Fisher exact, chi-square and Kruskal–Wallis tests. We presumed statistical significance at p < 0.05. Results: We found that GG genotype frequency was significantly higher in NS group than control group (p = 0.02) while GT genotype was the most frequent in control group (88%, p = 0.001). EDN1 rs5370 alleles showed insignificant differences between NS group and control (p = 0.69). GG genotype was found to be significantly higher among SSNS group when compared to SRNS and control groups (p = 0.03). Insignificant difference was detected in allelic frequency between SSNS, SRNS and control groups (p = 0.89). GG genotype was associated with hypertension among NS children (p < 0.001) while GT genotype was associated with normal blood pressure (p = 0.007). We found insignificant differences between the studied genotypes and serum cholesterol level or renal histopathology. Conclusions: EDN1 rs5370 polymorphism may predispose to primary NS in children and affects the steroid therapy response and blood pressure values.



Mansoura University Faculty of Medicine


Pediatric Nephrology