Variant "TGFBR2:rs9823731"
Search results: 2 records
Variant information
Gene:
TGFBR2 
Variant:
TGFBR2:rs9823731 
Genomic location:
chr3:30683291(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001024847.2:c.170-2948A>G
protein_coding NM_003242.5:c.95-2948A>G
dbSNP ID:
rs9823731  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
1 
Effect type:
Pleiotropy(2)  
Modifier effect:
Association with intracerebral hemorrhage(1) ,Association with lesion counts(1)  
Details：
  • Target disease:
    Cerebral Cavernous Malformation (DOID_0060669)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Association with intracerebral hemorrhage 
    Evidence:
    P=0.009 
    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.
  • Target disease:
    Cerebral Cavernous Malformation (DOID_0060669)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Association with lesion counts 
    Evidence:
    P=0.011 
    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.