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

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Polymorphisms in interleukin-4-related genes in patients with minimal change nephrotic syndrome.

Authors: Ikeuchi, Y  Kobayashi, Y  Arakawa, H  Suzuki, M  Tamra, K  Morikawa, A 
Citation: Ikeuchi Y, etal., Pediatr Nephrol. 2009 Mar;24(3):489-95. doi: 10.1007/s00467-008-1003-y. Epub 2008 Nov 15.
RGD ID: 7244144
Pubmed: PMID:19011907   (View Abstract at PubMed)
DOI: DOI:10.1007/s00467-008-1003-y   (Journal Full-text)

Minimal change nephrotic syndrome (MCNS) in children is frequently associated with allergy and immunoglobulin E production. T helper subtype 2 cytokines, such as interleukin (IL)-4 and IL-13, may have an important role in the development of atopy. We investigated the association of genetic variations of IL-4 receptor alpha chain (IL-4Ralpha), IL-13 and signal transducer and activator of transcription 6 (STAT6) genes with MCNS. We analyzed these polymorphisms in 85 Japanese children (55 males, 30 females) with MCNS and 127 healthy controls with neither allergic nor renal diseases. Genomic DNA was extracted from peripheral blood leukocytes. The single nucleotide polymorphisms of IL-4Ralpha (Ile50Val) and IL-13 (R130Q) were detected by primer-specific polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism analysis, respectively. GT repeat polymorphism in STAT6 gene exon 1 was investigated by fragment length analysis. A significant difference in allelic frequencies in the STAT6 gene was detected between the MCNS and control groups. There was no significant difference between the two groups for genetic variations of IL-4Ralpha and IL-13 genes. We found a significant difference in IL-4Ralpha gene polymorphism between MCNS subgroups divided according to the number of relapses. These results suggested that the genetic variation in the first exon of the STAT6 gene may be associated with a predisposition to MCNS and that the genetic variation in the IL-4Ralpha gene may be associated with its clinical course.



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

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
STAT6Humanlipoid nephrosis  IAGP DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)RGD 
Stat6Ratlipoid nephrosis  ISOSTAT6 (Homo sapiens)DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)RGD 
Stat6Mouselipoid nephrosis  ISOSTAT6 (Homo sapiens)DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
STAT6HumanNephrotic syndrome  IAGP DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 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