Academic Journal
Assessing the association of rare MDR1 variants (rs944806668, rs1816042256, and rs1295312177) with steroid response in Iraqi children with idiopathic nephrotic syndrome
| Title: | Assessing the association of rare MDR1 variants (rs944806668, rs1816042256, and rs1295312177) with steroid response in Iraqi children with idiopathic nephrotic syndrome |
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| Authors: | Ali Mohammed Abd Alridha, Dheyaa Jabbar Kadhim, Ayad Hussein Ali Alkhazrajy |
| Source: | Egyptian Journal of Medical Human Genetics, Vol 26, Iss 1, Pp 1-13 (2025) |
| Publisher Information: | SpringerOpen, 2025. |
| Publication Year: | 2025 |
| Collection: | LCC:Medicine (General) LCC:Genetics |
| Subject Terms: | Genetic variants, MDR1 gene, Steroid resistance, Nephrotic syndrome, Iraq, Medicine (General), R5-920, Genetics, QH426-470 |
| More Details: | Abstract Background Several studies have linked the development of steroid-resistant nephrotic syndrome (SRNS) to variations in the multidrug resistance 1 gene (MDR1). However, disparities in findings have been noted among children of different ethnic origins. Objectives This study aimed to examine the relationship between MDR1 variants [rs944806668 (V1), rs1816042256 (V2), and rs1295312177 (V3)] and the risk of developing SRNS in Iraqi patients with idiopathic nephrotic syndrome (INS). Methods This case–control study included children with steroid-sensitive INS (n = 30) and SRNS (n = 30) from the Babylon Hospital for Maternity and Pediatrics. Sanger sequencing was used to determine the participants’ genotypes. Results Children with the V2 T/C genotype were more likely to develop SRNS [odds ratio (OR) and 95% confidence interval (95% CI): 10.8 (3.26–35.72), p 0.05]. Moreover, children with the wild–variant–variant genotype combination of the V1, V2, and V3 variants exhibited a significantly higher risk of developing SRNS [OR (95% CI) 34 (4.91–235.61), p |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2090-2441 |
| Relation: | https://doaj.org/toc/2090-2441 |
| DOI: | 10.1186/s43042-025-00662-2 |
| Access URL: | https://doaj.org/article/d84398267d914672ac04804904cc261b |
| Accession Number: | edsdoj.84398267d914672ac04804904cc261b |
| Database: | Directory of Open Access Journals |
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| ISSN: | 20902441 |
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| DOI: | 10.1186/s43042-025-00662-2 |
| Published in: | Egyptian Journal of Medical Human Genetics |
| Language: | English |