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Updated: Jun 24, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Interleukin-1 cluster gene polymorphisms in childhood IgA nephropathy
Won Ho Hahn1, Byoung Soo Cho, Sung Do Kim
1Department of Pediatrics, East West Kidney Diseases Research Institute, School of Medicine, Kyung Hee University, Dondaemun-gu, Hoegi-dong #1, Seoul, 130-701, Korea.
Single nucleotide polymorphisms in IL-1 beta and IL-1 receptor antagonist genes are linked to childhood IgA nephropathy (IgAN) susceptibility. Specific IL1B gene variants are also associated with podocyte damage in pediatric IgAN patients.
Area of Science:
- Genetics
- Immunology
- Pediatric Nephrology
Background:
- IgA nephropathy (IgAN) is a common form of glomerulonephritis in children.
- The role of genetic factors, particularly the IL-1 gene cluster, in IgAN pathogenesis is not fully understood.
Purpose of the Study:
- To investigate the association between single nucleotide polymorphisms (SNPs) in the IL-1 gene cluster (IL1A, IL1B, IL1RN) and childhood IgA nephropathy.
- To explore the correlation of these SNPs with clinical and pathological features of IgAN.
Main Methods:
- Case-control study including 182 children with IgAN and 500 healthy controls.
- Genotyping of SNPs in IL1A, IL1B, and IL1RN genes.
- Analysis of associations with proteinuria, podocyte foot process effacement, and renal pathology markers.
Main Results:
- Significant differences in SNP frequencies were observed for IL1B and IL1RN genes.
- Specific IL1B SNPs (rs1143627, rs3917356, rs1143633) were associated with podocyte foot process effacement.
- IL1A SNPs showed a potential link to proteinuria development.
Conclusions:
- The IL1B and IL1RN genes are associated with increased susceptibility to IgAN in children.
- IL1B gene variants are linked to podocyte foot process effacement in pediatric IgAN.
- IL1A may play a role in proteinuria development in IgAN.
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