RGD Reference Report - Interleukin-1 cluster gene polymorphisms in childhood IgA nephropathy. - Rat Genome Database

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Interleukin-1 cluster gene polymorphisms in childhood IgA nephropathy.

Authors: Hahn, WH  Cho, BS  Kim, SD  Kim, SK  Kang, S 
Citation: Hahn WH, etal., Pediatr Nephrol. 2009 Jul;24(7):1329-36. Epub 2009 Mar 12.
RGD ID: 6907082
Pubmed: PMID:19280228   (View Abstract at PubMed)
DOI: DOI:10.1007/s00467-009-1146-5   (Journal Full-text)

We have carried out a study with the aim of investigating the association between single nucleotide polymorphisms (SNPs) of the IL-1 gene cluster and childhood IgA nephropathy (IgAN). SNPs of the IL-1 alpha, IL-1 beta, and IL-1 receptor antagonist (RN) genes (IL1A, IL1B, and IL1RN, respectively) were analyzed in 182 patients with childhood IgAN and in 500 healthy controls. The IgAN patients were also dichotomized and compared with respect to proteinuria (<4 mg and >or=4 mg/m(2) per hour, respectively), the presence or absence of podocyte foot process effacement, and the presence of pathologically early and advanced disease markers, such as interstitial fibrosis, tubular atrophy, or global sclerosis. Significant differences in SNP frequencies were observed for the IL1B and IL1RN genes (rs1143627, rs3917356, and rs1143633 in the IL1B gene, and rs928940, rs439154, and rs315951 in the IL1RN gene). Moreover, rs1143627, rs3917356, and rs1143633 of IL1B were found to be significantly associated with the presence of podocyte foot process effacement. Our results suggest that the IL1B and IL1RN genes are associated with increased susceptibility to IgAN in children. They also suggest that the development of proteinuria in IgAN is related to IL1A and that podocyte foot process effacement is associated with IL1B.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
IgA glomerulonephritis  IAGP 6907082DNA:SNPs: :rs1143627 more ...RGD 
IgA glomerulonephritis susceptibilityIAGP 6907082DNA:polymorphisms:intron more ...RGD 
IgA glomerulonephritis  ISOIL1B (Homo sapiens)6907082; 6907082DNA:SNPs: :rs1143627 more ...RGD 
IgA glomerulonephritis susceptibilityISOIL1RN (Homo sapiens)6907082; 6907082DNA:polymorphisms:intron more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal renal morphology susceptibilityIAGP 6907082DNA:polymorphisms:intron more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Il1b  (interleukin 1 beta)
Il1rn  (interleukin 1 receptor antagonist)

Genes (Mus musculus)
Il1b  (interleukin 1 beta)
Il1rn  (interleukin 1 receptor antagonist)

Genes (Homo sapiens)
IL1B  (interleukin 1 beta)
IL1RN  (interleukin 1 receptor antagonist)

Additional Information