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J Nephropathol. 2025;14(2): e27597.
doi: 10.34172/jnp.2025.27597
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Original Article

Study of genetic polymorphisms of adenosine triphosphate-binding cassette B1 (ABCB1) gene in Iraqi nephrotic syndrome patients on prednisolone therapy

Rawan Azad Mohammed 1* ORCID logo, Ahmed Salih Sahib 2 ORCID logo, Qahtan Mohammed Ali 3 ORCID logo

1 Department of Pharmacology and Toxicology, College of Pharmacy, University of Kerbala, Iraq
2 Department of Pharmacology and Toxicology, College of Pharmacy, Ahlulbait University, Kerbala, Iraq
3 Consultant Pediatric Nephrology, Kerbala Teaching Hospital for Children, Kerbala, Iraq
*Corresponding Author: Rawan Azad Mohammed, Email: rawan.a@s.uokerbala.edu.iq

Abstract

Introduction: Steroids are the primary treatment for idiopathic nephrotic syndrome. Pharmacogenomic factors, including genetic and histological modifications, play a significant role in influencing the response to steroids. One such factor is the excessive synthesis of P-glycoprotein (permeability glycoprotein) and multidrug resistance-associated protein 1 (MDR-1), which may contribute to the development of steroid resistance and alterations in steroid pharmacokinetics.

Objectives: We examined the correlation between steroid responsiveness and the MDR-1 gene variations, specifically rs1045642 (3435T/C) and rs2032582 (2677G/T/A), in children in Iraq diagnosed with idiopathic nephrotic syndrome (INS).

Patients and Methods: In this cross-sectional study, one hundred Iraqi pediatric patients aged one to 16 years, all diagnosed with primary nephrotic syndrome and treated with prednisolone, were enrolled. After isolating genomic DNA, genotyping was performed using the allele-specific polymerase chain reaction (PCR) technique. A notable correlation was identified between the adenosine triphosphate-binding cassette B1 (ABCB1) gene SNPs 3435T>C and 2677G>T/A, and the likelihood of prednisolone resistance in these patients with nephrotic syndrome.

Results: The study included 45 cases of steroid-sensitive nephrotic syndrome (SSNS), 38 cases of steroid-dependent nephrotic syndrome (SDNS), and 17 cases of steroid-resistant nephrotic syndrome (SRNS). Our investigation revealed a significant correlation between the 3435T>C polymorphism of the ABCB1 gene and the likelihood of resistance to prednisolone in pediatric patients with nephrotic syndrome (p = 0.02). The genotype distribution for rs1045642 (3435T>C SNP) was 14 TT, 68 TC, and 18 CC. For rs2032582 (2677G/T/A SNP), the genotype distribution was 18 GG, 16 GT, 24 TT, 23 TA, and 19 AA. Additionally, the 2677G>T/A polymorphism was significantly associated with the onset of prednisolone-resistant nephrotic syndrome (P = 0.043).

Conclusion: This study concluded that children with the MDR-1 3435T/C and 2677G/T/A polymorphisms may be more vulnerable to SRNS and, therefore, may require alternative therapeutic approaches.



Implication for health policy/practice/research/medical education:

In our cross-sectional study, we investigated the association between steroid resistance and ABCB1 (adenosine triphosphate-binding cassette B1) gene polymorphisms (3435T/C and 2677G/T/A) in one hundred Iraqi pediatric patients aged one to 16 years with primary nephrotic syndrome, all of whom were treated with prednisolone. Our findings revealed that both polymorphisms were significantly associated with increased steroid resistance. Furthermore, the results suggest that children with these genetic variations may require alternative treatments for steroid-resistant nephrotic syndrome.

Please cite this paper as: Mohammed RA, Sahib AS, Ali QM. Study of genetic polymorphisms of adenosine triphosphate-binding cassette B1 (ABCB1) gene in Iraqi nephrotic syndrome patients on prednisolone therapy. J Nephropathol. 2025;14(2):e27597. DOI: 10.34172/jnp.2025.27597.

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Submitted: 28 Nov 2024
Revision: 27 Jan 2025
Accepted: 04 Feb 2025
ePublished: 08 Mar 2025
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