RGD Reference Report - Polymorphisms of interleukin-4--related genes in Japanese children with minimal change nephrotic syndrome. - Rat Genome Database

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Polymorphisms of interleukin-4--related genes in Japanese children with minimal change nephrotic syndrome.

Authors: Kobayashi, Y  Arakawa, H  Suzuki, M  Takizawa, T  Tokuyama, K  Morikawa, A 
Citation: Kobayashi Y, etal., Am J Kidney Dis. 2003 Aug;42(2):271-6.
RGD ID: 7244138
Pubmed: PMID:12900808   (View Abstract at PubMed)

BACKGROUND: Minimal change nephrotic syndrome (MCNS) in children frequently is associated with allergy and immunoglobulin E production. T Helper subtype 2 cytokines, such as interleukin-4 (IL-4), may have an important role in the development of atopy. We investigated the associations of gene polymorphisms of IL-4, its receptor (IL-4R), and the signal transducer and activator 6 (STAT6) gene with MCNS. METHODS: We analyzed these polymorphisms in Japanese children with MCNS (n = 58) and healthy controls with neither allergic nor renal disease (n = 63). The polymerase chain reaction (PCR) and restriction fragment length polymorphism method was used for the IL-4 promoter gene polymorphism (-590C/T), and PCR single-strand conformation polymorphism analysis was used for the IL-4Ralpha chain gene (1902A/G) and STAT6 3' untranslated region (2964G/A) polymorphisms. RESULTS: There was a significant difference between the MCNS group and controls in genotypic distribution of IL-4 promoter gene polymorphism. Frequency of the T allele was significantly lower in the MCNS group than controls. There was no difference between the MCNS group and controls in the IL-4R gene polymorphism. In the STAT6 gene, no significant differences in genotypic and allelic distribution were observed between the 2 groups. However, there were significant differences between patients who did not need cytotoxic agents or who experienced 3 or fewer relapses and controls. CONCLUSION: These results suggest that genetic variations in the IL-4 and STAT6 genes may be associated with predisposition to MCNS, partially the clinical course of 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 severityIAGP DNA:polymorphism:3' utr:g.2964G>A (human)RGD 
Stat6Ratlipoid nephrosis severityISOSTAT6 (Homo sapiens)DNA:polymorphism:3' utr:g.2964G>A (human)RGD 
Stat6Mouselipoid nephrosis severityISOSTAT6 (Homo sapiens)DNA:polymorphism:3' utr:g.2964G>A (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
STAT6HumanHypoalbuminemia severityIAGP DNA:polymorphism:3' utr:g.2964G>ARGD 
STAT6HumanNephrotic syndrome severityIAGP DNA:polymorphism:3' utr:g.2964G>ARGD 
STAT6HumanProteinuria severityIAGP DNA:polymorphism:3' utr:g.2964G>ARGD 
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