Biochemistry Division, Chemistry Department, Faculty of Science, Mansoura University, Mansoura, 35516, Egypt.
Genetic Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, 35516, Egypt.
Mol Biol Rep. 2023 May;50(5):4481-4490. doi: 10.1007/s11033-023-08387-4. Epub 2023 Apr 4.
One of the most common kidney illnesses in developing countries is pediatric nephrotic syndrome (PNS), which is frequently associated with dyslipidemia and edema. The rapid discovery of genes related to NS has aided in the understanding of the molecular mechanics of glomerular filtration. The goal of this study is to determine the relationship between NPHS2 and ACTN4 in PNS youngsters.
A study with 100 NS children and 100 healthy matched volunteers was conducted. Genomic DNA was extracted from peripheral blood. Single-nucleotide polymorphisms were genotyped using ARMS-PCR.
A substantial decline in the level of albumin was found in NS cases (P < 0.001) Further on, a significantly difference in T.C and TG level between healthy and NS patient. Molecular study showed a highly significant difference of NS patients from controls regarding NPHS2 rs3829795 polymorphic genotypes as the GA heterozygous genotype shows highly significant difference from controls (P < 0.001) as well as GA + AA genotypes (P < 0.001) in comparison with GG genotype. Regarding rs2274625, The GA heterozygous genotype showed no statistically significant difference between genotypes and alleles with NS (P = 0.246). Association of AG haplotype NPHS2 rs3829795-rs2274625 haplotypes found a significant association with the risk of developing NS (P = 0.008). Concerning the ACTN4 rs121908415 SNP, there was no link between this mutation and NS children.
The correlation of AG haplotype NPHS2 rs3829795-rs2274625 haplotypes identified a strong association with the likelihood of getting NS, according to our findings. There was no connection found between the ACTN4 rs121908415 SNP and NS children.
发展中国家最常见的肾脏疾病之一是小儿肾病综合征（PNS），其常伴有血脂异常和水肿。对与 NS 相关的基因的快速发现有助于理解肾小球滤过的分子机制。本研究旨在确定 PNS 患儿中 NPHS2 和 ACTN4 之间的关系。
对 100 名 NS 患儿和 100 名健康匹配的志愿者进行了一项研究。从外周血中提取基因组 DNA。采用 ARMS-PCR 对单核苷酸多态性进行基因分型。
NS 病例的白蛋白水平显著下降（P<0.001）。此外，健康组和 NS 组患者的 T.C 和 TG 水平存在显著差异。分子研究表明，NS 患者与对照组之间 NPHS2 rs3829795 多态基因型存在显著差异，GA 杂合基因型与对照组相比具有显著差异（P<0.001），与 GG 基因型相比也具有显著差异（P<0.001）。关于 rs2274625，GA 杂合基因型与 NS 之间在基因型和等位基因方面无统计学意义差异（P=0.246）。NPHS2 rs3829795-rs2274625 单体型的 AG 单体型发现与 NS 发病风险有显著关联（P=0.008）。关于 ACTN4 rs121908415 SNP，未发现该突变与 NS 患儿之间存在关联。
根据我们的研究结果，NPHS2 rs3829795-rs2274625 单体型的 AG 单体型与 NS 发生的可能性之间存在很强的关联。未发现 ACTN4 rs121908415 SNP 与 NS 患儿之间存在关联。
