Hashemi Mohammad, Sadeghi-Bojd Simin, Aryanezhad Soheib, Rezaei Maryam
Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
J Nephropathol. 2017 Jul;6(3):138-143. doi: 10.15171/jnp.2017.24. Epub 2016 Dec 17.
Primary nephrotic syndrome (NS) is a common kidney disease in children. Objectives: The present study was aimed to investigate whether rs5370 G>T (lys198Asn) genetic variant of endothelin-1 (ET-1) is involved in the susceptibility to NS.
This case-control study was performed on 138 patients with NS and 150 healthy children. Genomic DNA was extracted from whole blood using salting out method. Polymorphism of the ET-1 rs5370 G>T (lys198Asn) polymorphism detected by T-ARMS-PCR as well as PCR-RFLP method.
The results showed that the genotype and allelic frequencies of the ET-1 rs5370 G>T variant were not significantly different between cases and controls. Furthermore, subgroup analysis showed that rs5370 G>T variant was not associated with gender of patients. In NS patients the genotype was not associated with cholesterol, triglyceride, total protein and albumin levels.
In conclusion, our findings indicate that ET-1 rs5370 G>T is not associated with NS. Further studies with larger sample sizes and different ethnicities are required to validate our findings.
原发性肾病综合征（NS）是儿童常见的肾脏疾病。目的：本研究旨在调查内皮素-1（ET-1）的rs5370 G>T（赖氨酸198天冬酰胺）基因变异是否与NS易感性有关。
本病例对照研究对138例NS患者和150名健康儿童进行。采用盐析法从全血中提取基因组DNA。采用T-ARMS-PCR以及PCR-RFLP方法检测ET-1 rs5370 G>T（赖氨酸198天冬酰胺）多态性。
结果显示，病例组和对照组之间ET-1 rs5370 G>T变异的基因型和等位基因频率无显著差异。此外，亚组分析表明rs5370 G>T变异与患者性别无关。在NS患者中，基因型与胆固醇、甘油三酯、总蛋白和白蛋白水平无关。
总之，我们的研究结果表明ET-1 rs5370 G>T与NS无关。需要进一步开展更大样本量和不同种族的研究来验证我们的研究结果。
