Gene "IL4"
Found 3 records
Gene information
Gene symbol:
IL4
See related:
Ensembl: ENSG00000113520, Gene ID: 3565
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
3 
Disorder:
2 
Vriant:
3 
Reference:
2 
Effect type:
Pleiotropy(2) ,Expressivity(1)  
Modifier effect:
Altered severity(1) ,Association with intracerebral hemorrhage(1) ,Association with lesion counts(1)  
Details：
  • Variant 1:
    IL4:rs9327638
    Gene:
    IL4
    Genomic location:
    dbSNP ID:
    rs9327638
    Target disease:
    Cerebral Cavernous Malformation(DOID_0060669)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Association with intracerebral hemorrhage 
    Evidence:
    P=0.008 
    Effect:
    These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity.
    Reference:
    PMID25472749
    Title:
    Polymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity.
    Species studied:
    Human
    Abstract:
    Familial cerebral cavernous malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by multiple brain lesions that often result in intracerebral hemorrhage (ICH), seizures, and neurological deficits. Carriers of the same genetic mutation can present with variable symptoms and severity of disease, suggesting the influence of modifier factors. Evidence is emerging that inflammation and immune response play a role in the pathogenesis of CCM. The purpose of this study was to investigate whether common variants in inflammatory and immune response genes influence the severity of familial CCM1 disease, as manifested by ICH and greater brain lesion count.
  • Variant 2:
    IL4:rs194395
    Gene:
    IL4
    Genomic location:
    dbSNP ID:
    rs194395
    Target disease:
    Cerebral Cavernous Malformation(DOID_0060669)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Association with lesion counts 
    Evidence:
    P=0.016 
    Effect:
    These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity.
    Reference:
    PMID25472749
    Title:
    Polymorphisms in inflammatory and immune response genes associated with cerebral cavernous malformation type 1 severity.
    Species studied:
    Human
    Abstract:
    Familial cerebral cavernous malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by multiple brain lesions that often result in intracerebral hemorrhage (ICH), seizures, and neurological deficits. Carriers of the same genetic mutation can present with variable symptoms and severity of disease, suggesting the influence of modifier factors. Evidence is emerging that inflammation and immune response play a role in the pathogenesis of CCM. The purpose of this study was to investigate whether common variants in inflammatory and immune response genes influence the severity of familial CCM1 disease, as manifested by ICH and greater brain lesion count.
  • Variant 3:
    IL4:c.-589C>T
    Gene:
    IL4
    Genomic location:
    chr5:132009154
    dbSNP ID:
    rs2243250
    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.