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Molecular Biology Reports

, Volume 46, Issue 6, pp 6339–6344 | Cite as

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

  • Sepideh Zununi Vahed
  • Hakimeh Moghaddas Sani
  • Mehdi Haghi
  • Mohammadali Mohajel Shoja
  • Mohammadreza ArdalanEmail author
Original Article
  • 84 Downloads

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.

Keywords

Glucocorticoids Steroid resistance Late-onset SRNS Podocyte mutations Podocin Azari population 

Notes

Funding

This research was funded by National Institute for Medical Research Development (NIMAD Grant No. 958376).

Compliance with ethical standards

Conflict of interest

The authors declared no potential conflicts of interest.

Ethical approval

Present study was certified by the Ethics Committee of National Institute for Medical Research Development (NIMAD). All the procedures were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was taken from all participants after explaining the purpose of the study.

Supplementary material

11033_2019_5074_MOESM1_ESM.docx (417 kb)
Supplementary material 1 (DOCX 417 kb)

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Copyright information

© Springer Nature B.V. 2019

Authors and Affiliations

  • Sepideh Zununi Vahed
    • 1
  • Hakimeh Moghaddas Sani
    • 1
    • 2
  • Mehdi Haghi
    • 3
  • Mohammadali Mohajel Shoja
    • 4
  • Mohammadreza Ardalan
    • 1
    Email author
  1. 1.Kidney Research CenterTabriz University of Medical SciencesTabrizIran
  2. 2.School of Life and Environmental SciencesUniversity of SydneySydneyAustralia
  3. 3.Department of Biology, Faculty of Natural SciencesUniversity of TabrizTabrizIran
  4. 4.Department of SurgeryUniversity of Texas Medical BranchGalvestonUSA

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