Variant "IL4:c.-589C>T"
Search result: 1 record
Variant information
Gene:
IL4 
Variant:
IL4:c.-589C>T 
Genomic location:
chr5:132009154(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000589.3:c.-589C>T
protein_coding NM_172348.2:c.-589C>T
IL13-IL4:n.132009154C>T
dbSNP ID:
rs2243250  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Airway Hyperresponsiveness (EFO_0005414)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P<0.0001 
    Effect:
    Polymorphism in the promoter of the IL-4 gene is associated with asthma and is a disease modifier in terms of the severity of AHR.
    Reference:
    PMID17207024
    Title:
    Association between the IL-4 promoter polymorphisms and asthma or severity of hyperresponsiveness in Taiwanese.
    Species studied:
    Human
    Abstract:
    Recent family-based studies have revealed a linkage between human chromosome 5q31 and asthma, elevated serum IgE levels and airway hyperresponsiveness (AHR). Among the candidate genes in this region is the gene encoding IL-4. This gene could be a candidate gene for asthma. The aim of this prospective case-control study was to assess the frequency of polymorphisms in the IL-4 gene promoter among asthmatic patients from Taiwan.