Related Experiment Video
Updated: Mar 20, 2026

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
Published on: September 1, 2015
Single Nucleotide Polymorphisms in Pediatric Idiopathic Nephrotic Syndrome
Maija Suvanto1, Timo Jahnukainen1, Marjo Kestilä2
1Children's Hospital, University of Helsinki and Helsinki University Hospital, 00290 Helsinki, Finland.
Genetic variants in the MDR1 gene are associated with medication choices for pediatric idiopathic nephrotic syndrome (INS). Other gene variants showed limited clinical relevance in INS patients.
Area of Science:
- Genetics
- Pediatric Nephrology
- Pharmacogenomics
Background:
- Polymorphic variants in genes affecting glomerular function and drug metabolism are linked to pediatric idiopathic nephrotic syndrome (INS) pathophysiology.
- Previous study results on these genetic associations in INS remain inconsistent.
- Understanding these genetic links is crucial for tailoring treatment strategies.
Purpose of the Study:
- To investigate the association of eleven allelic variants in eight genes with pediatric idiopathic nephrotic syndrome (INS).
- To explore the clinical relevance of these variants, including medication regimes, relapse frequency, and age of onset.
- To analyze the association of multidrug resistance-1 (MDR1) gene variants and haplotypes in INS patients.
Main Methods:
- Genotyping of eleven allelic variants in eight genes (ANGPTL4, GPC5, IL-13, MIF, nNOS, MDR1, GLCCI1, NR3C1) in 100 INS patients.
- Utilized Polymerase Chain Reaction (PCR) and direct sequencing for variant genotyping.
- Estimated haplotypes for multidrug resistance-1 (MDR1) variants.
Main Results:
- Few differences in Single Nucleotide Polymorphism (SNP) genotype frequencies were observed between patients and controls.
- Significant association (p < 0.05) found between multidrug resistance-1 (MDR1) SNPs (rs1236, rs2677, rs3435) and different medication regimens.
- Marginal associations detected between ANGPTL4, GPC5, GLCCI1, and NR3C1 variants and clinical parameters like medication, relapses, and age of onset.
Conclusions:
- Multidrug resistance-1 (MDR1) variant genotype distribution is associated with varying medication choices in pediatric idiopathic nephrotic syndrome (INS).
- Other analyzed gene variants demonstrated minimal or marginal clinical relevance in the context of INS.
- Further research may elucidate the precise role of MDR1 in INS treatment response.
More Related Videos
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
07:35Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
Related Concept Videos
Nephrotic Syndrome I : Introduction
Single Nucleotide Polymorphisms-SNPs
Nephrotic Syndrome II : Assessment and Medical Management
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Pharmacokinetics in Pediatric Patients: Drug Excretion
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu