Relation between single nucleotide polymorphism rs3738423 (C>T) of NPHS2 gene and some biochemical parameters in pediatrics nephrotic syndrome patients

Abstract

Background: Clinical biochemical parameters were known as important criteria for diagnosis and treatment of nephrotic syndrome (NS). Single nucleotide polymorphism (SNP) rs3738423 (C>T) of NPHS2 gene encoding for podocin protein in globular membrane was proved associated to steroid resistant nephrotic syndrome. This study was to evaluate the relation between rs3738423 (C>T) of NPHS2 gene and biochemical parameters of pediatric NS patients in steroid- sensitive (SSNS), early (ESRNS) and late (LSRNS) steroid-resistant groups. Methods: Blood and urine samples from 149 patients were collected for protein, albumin and proteinuria/creatininuria index analysis; blood samples in EDTA tube were used for NPHS2 gene analysis. Results: The results showed that CC and CT genotypes were mostly abundant in all three groups, whereas TT was minor appeared in only SSNS and LSRNS groups. Patients with the CT genotype in the ESRNS group had a proteinuria/creatininuria index nearly twice as high as those patients with the CC genotypes. Meanwhile, those with CT genotype in the SSNS and LSRNS groups had lower rates than the CC genotype. Conclusion: Clinical biochemical parameters significantly contributed to the diagnosis, monitoring and treatment of pediatric nephrotic syndrome, the changes of these parameters depended on the interaction between the response to corticoid and rs3738423 (C>T) polymorphism of NPHS2 gene in pediatric nephrotic syndrome patients.

Keywords

• NPHS2
• biochemical parameters
• pediatrics nephrotic syndrome