标题：Relation between Single Nucleotide Polymorphism rs3738423 (C>T) of NPHS2 Gene and some Biochemical Parameters in Pediatrics Nephrotic Syndrome Patients
期刊名称：Walailak Journal of Science and Technology (WJST)
印刷版ISSN：2228-835X
出版年度：2021
卷号：18
期号：1
页码：6518-6524
DOI：10.48048/wjst.2021.6518
语种：English
出版社：Institute of Research and Development, Walailak University.
摘要：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 pediatrics NS patients in steroid- sensitive (SS), early (ESR) and late (LSR) steroid resistant groups. Blood and urine samples from 149 patients were collected for protein, albumin and protein/creatinine analysis; blood samples in EDTA tube were used for NPHS2 gene analysis. The results showed that CC and CT genotypes were mostly abundant in all three groups, whereas TT was minor appeared in only SS and KTM groups. Patients with the CT genotypes in the ESR group had a protein/creatinine index nearly twice as high as those patients with the CC genotypes. Meanwhile, those with CT genotypes in the SS and LSR groups had lower rates than the CC genotypes. Clinical biochemical parameters significantly contributed to the diagnosis, monitoring and treatment of pediatrics 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 pediatrics nephrotic syndrome patients.
