Department of Pediatrics, Faculty of Medicine, University of Mansoura, Mansoura, Egypt.
Biochemistry Section, Mansoura University Chidren's Hospital, Mansoura, Egypt.
An Pediatr (Engl Ed). 2021 Dec;95(6):406-412. doi: 10.1016/j.anpede.2020.12.001. Epub 2020 Dec 31.
Primary nephrotic syndrome (NS) is a common glomerular disease in children. We assessed the genotypes and frequency of the rs5370 allelic variant of the EDN1 gene in children with primary NS.
We conducted a case-control study in Mansoura University Children's Hospital, Egypt between December 2015 and January 2018. We recruited 50 patients with steroid-sensitive NS (SSNS) and 50 patients with steroid-resistant NS (SRNS) in addition to 100 healthy controls. The patients underwent clinical evaluations and tests including measurement of serum albumin, cholesterol, creatinine and urea levels and a 24-h urinary protein test. We used polymerase chain reaction methods to assess the genotypes of rs5370 variants of the EDN1 gene (GG, GT and TT) and alleles (T and G) in the groups under study.
The most frequent genotype of the EDN1 gene at the locus of interest in the control group was the GT genotype (88%; P=.001) while the GG genotype was more frequent in the NS group compared to the control group (P=.02). We did not find statistically significant differences between the NS and control groups in regard to the EDN1 rs5370 alleles (P=.69). The GG genotype was more frequent in the SSNS group compared to the SRNS and control groups (P=.03). When we compared allele frequencies between the control, SSNS and SRNS groups, we did not find significant differences (P=.89). The GT genotype was associated with normal blood pressure in children with NS (P=.007), while the GG genotype was associated with hypertension (P<.001). We did not find statistically significant differences in renal histopathology or serum cholesterol levels based on the genotype.
The GG genotype at the rs5370 locus of the EDN1 gene may be associated with an increased risk of primary NS and a better response to steroid therapy.
原发性肾病综合征（NS）是儿童中常见的肾小球疾病。我们评估了原发性 NS 患儿 EDN1 基因 rs5370 等位基因变异的基因型和频率。
我们在 2015 年 12 月至 2018 年 1 月期间在埃及曼苏拉大学儿童医院进行了一项病例对照研究。我们招募了 50 例激素敏感型 NS（SSNS）患者和 50 例激素抵抗型 NS（SRNS）患者，以及 100 例健康对照者。对患者进行临床评估和检查，包括血清白蛋白、胆固醇、肌酐和尿素水平以及 24 小时尿蛋白检测。我们使用聚合酶链反应方法检测研究组中 EDN1 基因 rs5370 变异（GG、GT 和 TT）基因型和等位基因（T 和 G）。
在对照组中，该基因座最常见的基因型是 GT 基因型（88%；P=0.001），而 NS 组的 GG 基因型比对照组更为常见（P=0.02）。我们未发现 NS 组和对照组之间 EDN1 rs5370 等位基因存在统计学差异（P=0.69）。与 SRNS 组和对照组相比，SSNS 组的 GG 基因型更为常见（P=0.03）。当我们比较对照组、SSNS 组和 SRNS 组之间的等位基因频率时，我们未发现显著差异（P=0.89）。GT 基因型与 NS 患儿的正常血压相关（P=0.007），而 GG 基因型与高血压相关（P<0.001）。我们未发现基因型与肾组织病理学或血清胆固醇水平存在统计学差异。
EDN1 基因 rs5370 位点的 GG 基因型可能与原发性 NS 的风险增加和对激素治疗的反应更好相关。
