Gene "BAX"
Found 1 record
Gene information
Gene symbol:
BAX
See related:
Ensembl: ENSG00000087088, Gene ID: 581
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Variant 1:
    BAX:c.-248A>G
    Gene:
    BAX
    Genomic location:
    chr19:49457938
    dbSNP ID:
    rs4645878
    Target disease:
    Ovarian Cancer(DOID_2394)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=4.1, 95 % CI: 1.23-13.97 
    Effect:
    That polymorphism of BAX and TP53 genes may be potential genetic modifiers for developing ovarian cancer.
    Reference:
    PMID26209050
    Title:
    Potential impact of (rs 4645878) BAX promoter -248G>A and (rs 1042522) TP53 72Arg>pro polymorphisms on epithelial ovarian cancer patients.
    Species studied:
    Human
    Abstract:
    In India, Epithelial ovarian cancer has emerged as one of the most common malignancies affecting women. Tumor protein 53 (TP53) induces expression of the B cell lymphoma 2-associated X protein (BAX) gene by directly binding to the TP53-binding element in the BAX promoter. Therefore, we hypothesized that single-nucleotide polymorphism of BAX promoter -248G>A and TP53 72Arg>Pro gene may jointly contribute to ovarian cancer risk.