Document Type : Original Article
Authors
1
Biochemistry Division, Chemistry Department, Faculty of Science, Mansoura University, Mansoura, 35516, Egypt.
2
Genetic unit, department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura , 35516, Egypt.
Abstract
One of the most frequent kidney disorders in underdeveloped nations is a pediatric nephrotic syndrome (PNS), which has significant morbidity due to cardiovascular consequences such as thrombosis, increased infection risk, and malnutrition. NS has been linked to the NPHS1 and NPHS2 genes, which have been identified as the causal genes. The goal of this study was to see if the NPHS1 rs437168 and NPHS2 rs3829795 genetic variations play a role in nephrotic syndrome susceptibility (NS). Methods: From October 2021 to April 2022, case-control research was done in the Pediatric Nephrology Unit of Mansoura University Children's Hospital. The study included 100 children with NS who were separated into two groups: the patient group, which included 71 children with SRNS, 29 children with SSNS, and the control group, which included 100 healthy matched volunteers. Peripheral blood was used to obtain genomic DNA. ARMS-PCR was used to genotype single-nucleotide polymorphisms. Results: Molecular study showed NPHS1 rs437168, as well as NPHS2 rs3829795, GA, AA, genotype, dominant model. GA genotype was found in 14 SDNS cases from 29 children representing (48.3%) while SRNS cases show 42 from 71children representing (59.2%) showing a significant frequency with risk of SRNS (OR=1.806, CI (1.017-3.204), P=0.044). Moreover, AA genotype was found only in 1(3.4%) case of SDNS and 13 cases (18.3%) of SRNS showing a significant increase in the risk of SRNS (OR = 3.981, CI (1.343-11.799, P= 0.013). The A allele showed a significantly higher frequency associated with the risk of SRNS (OR= 1.687, CI. (1.146 – 2.485), P =0.008). While rs3829795 genotypes and alleles were not significantly associated with risk of SRNS where GA as well as AA genotype p>0.05. Additionally, A highly statically significant decrease in serum albumin levels between NS patients as well as SRNS and SDNS compared to healthy control cases. While A highly substantial increase in total cholesterol and triglycerides levels between NS patients (SRNS) and (SDNS) compared to the healthy control group. On the other hand, no substantial differences were found among SDNS and SRNS regarding albumin, total cholesterol, or triglyceride level. Conclusion: Our results showed that the NPHS1 rs437168 polymorphism, as well as the NPHS2 rs3829795, may be associated with the development of NS in Egyptian primary nephrotic and a significant association between the NPHS1 rs437168 and the development of SRNS While no significant association between the development of SRNS and NPHS2 rs3829795 gene polymorphism.
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