Genetic variant in the 5' untranslated region of endothelin1 (EDN1) gene in children with primary nephrotic syndrome.
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.
['Yahia|Sohier|S|', 'Hammad|Ayman|A|', 'El-Gilany|Abdel-Hady|AH|', 'El-Assmy|Mohamed|M|', 'El-Tanbouly|Rasha|R|', 'Elsaid|Afaf M|AM|', 'Elmoursi|Lamiaa Z|LZ|', 'Elshazli|Rami M|RM|http://orcid.org/0000-0002-3381-2641', 'Shoaib|Rasha Ms|RM|']
genetic variants EDN1 children nephrotic syndrome rs1800997