RGD Reference Report - Polymorphism of the interleukin-4, interleukin-13, and signal transducer and activator of transcription 6 genes in Indonesian children with minimal change nephrotic syndrome. - Rat Genome Database

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Polymorphism of the interleukin-4, interleukin-13, and signal transducer and activator of transcription 6 genes in Indonesian children with minimal change nephrotic syndrome.

Authors: Acharya, B  Shirakawa, T  Pungky, A  Damanik, P  Massi, MN  Miyata, M  Matsuo, M  Gotoh, A 
Citation: Acharya B, etal., Am J Nephrol. 2005 Jan-Feb;25(1):30-5. Epub 2005 Feb 1.
RGD ID: 7244146
Pubmed: PMID:15687724   (View Abstract at PubMed)
DOI: DOI:10.1159/000083729   (Journal Full-text)

BACKGROUND/AIMS: Minimal change nephrotic syndrome (MCNS) in children is frequently associated with allergy and immunoglobulin E (IgE) production. T-helper subtype 2 cytokines, such as interleukin (IL)-4 and IL-13, have been implicated in the regulation of IgE production. We investigated the associations of gene polymorphisms of IL-4, IL-13, and signal transducer and activator 6 (STAT6) in Indonesian children with MCNS (n = 84) and controls with neither allergic nor renal disease (n = 61). METHODS: Polymerase chain reaction-restriction fragment length polymorphism was used to determine the IL-4 promoter gene polymorphism (-590C/T) and IL-13 gene polymorphism (4257G/A), and direct sequencing was used for the STAT6 3S untranslated region (2964G/A) polymorphism. RESULTS: There was a significant difference between the MCNS group and the controls in the genotypic distribution of IL-4 and IL-13 gene polymorphism. In the case of the IL-4 promoter gene, the frequency of the CC homozygote was significantly lower in the MCNS group than in the controls, while, in the case of IL-13, the frequency of the GG homozygote was significantly lower in the MCNS group. However, there was no difference between the MCNS group and the controls in the STAT6 gene polymorphism. CONCLUSION: The genetic variations in the IL-4 and IL-13 genes may be associated with predisposition to MCNS.



Disease Annotations    Click to see Annotation Detail View
RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
STAT6Humanlipoid nephrosis no_associationIAGP DNA:polymorphism:3' utr:2964G>A (human)RGD 
Stat6Ratlipoid nephrosis no_associationISOSTAT6 (Homo sapiens)DNA:polymorphism:3' utr:2964G>A (human)RGD 
Stat6Mouselipoid nephrosis no_associationISOSTAT6 (Homo sapiens)DNA:polymorphism:3' utr:2964G>A (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
STAT6HumanNephrotic syndrome no_associationIAGP DNA:polymorphism:3' utr:2964G>ARGD 
STAT6HumanProteinuria no_associationIAGP DNA:polymorphism:3' utr:2964G>A RGD 
Objects Annotated

Genes (Rattus norvegicus)
Stat6  (signal transducer and activator of transcription 6)

Genes (Mus musculus)
Stat6  (signal transducer and activator of transcription 6)

Genes (Homo sapiens)
STAT6  (signal transducer and activator of transcription 6)


Additional Information