Genetic variant in the 5ʹ untranslated region of endothelin1 (EDN1) gene in children with primary nephrotic syndrome. Issue 3 (16th November 2021) - Yahia, Sohier
Abstract: Endothelin‐1 plays a crucial role in the pathophysiology of nephrotic syndrome (NS) in children. The primary purpose of this study is to evaluate the contribution of the EDN1 (3A/4A; rs1800997) variant to the risk of nephrotic syndrome. This study involves 200 participants (100 healthy controls, 50 steroid‐sensitive nephrotic syndromes [SSNS] patients, and 50 steroid‐resistant nephrotic syndromes [SRNS] patients]. Genomic DNA has been characterized using the PCR‐RFLP technique. The predominant genotype that is common in this study population was the EDN1 3A/3A genotype (NS [75%] and healthy controls [88%]). The prevalence of EDN1 3A/4A genotype and EDN1 4A allele was significantly increased among NS patients compared with healthy subjects ( p ‐value < 0.05). Furthermore, the frequency of the EDN1 (3A/4A; rs1800997) variant was statistically significant among SRNS patients ( p ‐value < 0.05). The EDN1 3A/4A genotype and the EDN1 4A allele were identified as independent risk factors of the nephrotic syndrome among children.