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Published in: Pediatric Nephrology 11/2011

01-11-2011 | Original Article

Polymorphisms of the MDR1 and MIF genes in children with nephrotic syndrome

Authors: Hyun Jin Choi, Hee Yeon Cho, Han Ro, So Hee Lee, Kyung Hee Han, HyunKyung Lee, Hee Gyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong

Published in: Pediatric Nephrology | Issue 11/2011

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Abstract

Oral steroid treatment is the first line of therapy for childhood nephrotic syndrome (NS). Nonetheless, some patients are resistant to this treatment. Many efforts have been made to explain the differences in the response to steroid treatment in patients with NS based on the genetic background. We have investigated single nucleotide polymorphisms of the MDR1 [C1236T (rs1128503), G2677T/A (rs2032582), and C3435T (rs1045642)] and MIF (G-173C, rs755622) genes in 170 children with NS. Of these children, 69 (40.6%) were initial steroid non-responders, and 23 (13.5% of total) developed chronic kidney disease. Renal biopsy findings, which were available for 101 patients, showed that 35 patients had minimal change lesion and 66 had focal segmental glomerulosclerosis. The frequencies of the MDR1 1236 CC (18.8 vs 7.2%) or TC (53.5 vs 43.5%) genotype and C allele (45.5 vs 29.0%) were significantly higher in the initial steroid responders than in the non-responders. Analysis of MDR1 three-marker haplotypes revealed that the frequency of the TGC haplotype was significantly lower in the initial steroid responders than in the non-responders (15.8 vs 29.0%). There was no association between the MIF G-173C polymorphism and clinical parameters, renal histological findings, and steroid responsiveness. These data suggest that the initial steroid response in children with NS may be influenced by genetic variations in the MDR1 gene.
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Metadata
Title
Polymorphisms of the MDR1 and MIF genes in children with nephrotic syndrome
Authors
Hyun Jin Choi
Hee Yeon Cho
Han Ro
So Hee Lee
Kyung Hee Han
HyunKyung Lee
Hee Gyung Kang
Il Soo Ha
Yong Choi
Hae Il Cheong
Publication date
01-11-2011
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 11/2011
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-011-1903-0

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