TRPC6 and NPHS2 gene variants in adult patients with steroid-resistant nephrotic syndrome in North-West of Iran.

Abstract

Podocyte gene mutations and their role in the development of nephrotic syndrome (NS) have been reported in some ethnic groups. The aim of this study was to evaluate the presence of possible variants in TRCP6 and NPHS2 (podocin) genes and their association with clinical manifestations in a group of adult patients with steroid resistant nephrotic syndrome (SRNS). All participants including 36 patients with SRNS and 71 healthy volunteers were genotyped using polymerase chain reaction (PCR) and direct sequencing. Whole exons of NPHS2 gene and -254 C > G, -218 C > T, and -361 A > T polymorphisms in the promoter of TRPC6 gene were studied. There were no significant differences in the allele and genotype frequencies of aforementioned TRCP6 polymorphisms between cases and controls (P > 0.05). However, four novel polymorphisms including - 257 T > C, - 266 G > A, - 293 G > C, and - 21 G > A found in the promoter region of TRPC6 gene that may be involved in SRNS in our cohort. In NPHS2 gene, three different polymorphisms in the NPHS2 gene were found in 7 patients with FSGS and none of the previously reported risk polymorphisms was detected in our patients. Podocin related mutations are not too much associated with SRNS in adults, but we should consider the possibility of TRPC6 gene mutation in this population.