Study of Genetic Variation in Podocin Gene Associated with Idiopathic Nephrotic Syndrome

Background: Nephrotic syndrome (NS) is a kidney disease predominantly present in children with idiopathic condition; final stage of the disease progresses into end-stage renal disease. Generally, NS is treated using standard steroid therapy, however; most of the children are steroid sensitive and about 15–20% are non-responders (SRNS). In SRNS patients, the most common histopathological subtype is focal segmental glomerulosclerosis (FSGS). Mutations in several genes including NPHS2 have been implicated in SRNS. Gene R229Q polymorphism (p.R229Q) of NPHS2 is associated with adolescentor adult-onset SRNS in European and South American populations. The present work aimed to study the effect of NPHS2 R229Q genetic variations on the susceptibility to idiopathic NS and the treatment response in NS children from Benha University Hospital. Methods: Mutation analysis was carried out by Taqman allele discrimination of the NPHS2 gene R229Q polymorphism (rs61747728) using specific primers and probes in 40 INS (20 MCD and 20 FSGS) children and 20 healthy controls. The allele and genotype frequencies of NPHS2 gene were calculated for both cases and controls. Results: The wild allele and the wild genotype frequencies of rs61747728 were 100% for both nephrotic syndrome and control children. The mutant allele could not be detected in the population included. Conclusion: Only the wild allele and genotype were present in the population of this study (both nephrotic syndrome and control subjects). Bull. of Egyp. Soc. Physiol. Sci. (Official Journal of Egyptian Society for Physiological Sciences) (pISSN: 1110-0842; eISSN: 2356-9514)