Xuzhou Children's Hospital, Xuzhou, China.
J Clin Lab Anal. 2020 Apr;34(4):e23134. doi: 10.1002/jcla.23134. Epub 2020 Jan 25.
Recently, the rs5370 single nucleotide polymorphisms (SNPs) of Endothelin-1 (EDN1) showed association with the susceptibility of childhood primary nephrotic syndrome (CPNS). This study aims to investigate potential relationships between other EDN1 SNPs and CPNS.
Seven SNPs (rs5370, rs10478723, rs1476046, rs1800541, rs2070698, rs2071942, and rs9296344) of the EDN1 gene were genotyped in 579 CPNS patients and 586 age-matched healthy children. Then, we analyzed potential associations of the six SNPs with susceptibility of CPNS by using rs5370 as a conditional variant in a logistic regression model. SNP-SNP interaction analysis was performed to investigate the joint effects of the seven SNPs in the pathogenesis of CPNS.
Independent with rs5370, only rs9296344 significantly associated (T vs C, odds ratio [OR] = 0.71, 95% confidence interval [CI] = 0.57-0.88, P = .001) with the susceptibility of CPNS. Meanwhile, no joint effect among the analyzed seven SNPs was discovered in this study.
This study discovered that C allele of rs9296344 on EDN1 is a novel independent risk factor for CPNS.
最近，内皮素-1（EDN1）的 rs5370 单核苷酸多态性（SNPs）与儿童原发性肾病综合征（CPNS）的易感性有关。本研究旨在探讨其他 EDN1 SNPs 与 CPNS 之间的潜在关系。
在 579 例 CPNS 患者和 586 名年龄匹配的健康儿童中，对 EDN1 基因的 7 个 SNP（rs5370、rs10478723、rs1476046、rs1800541、rs2070698、rs2071942 和 rs9296344）进行了基因分型。然后，我们使用 rs5370 作为条件变异，在逻辑回归模型中分析了这 6 个 SNP 与 CPNS 易感性的潜在关联。进行 SNP-SNP 相互作用分析，以研究这 7 个 SNP 在 CPNS 发病机制中的联合作用。
与 rs5370 独立，只有 rs9296344 与 CPNS 的易感性显著相关（T 对 C，比值比[OR] = 0.71，95%置信区间[CI] = 0.57-0.88，P =.001）。同时，在本研究中未发现分析的 7 个 SNP 之间存在联合效应。
本研究发现 EDN1 上的 rs9296344 的 C 等位基因是 CPNS 的一个新的独立危险因素。
