Gene "ABCC3"
Found 1 record
Gene information
Gene symbol:
ABCC3
See related:
Ensembl: ENSG00000108846, Gene ID: 8714
Additive variants :
Detected
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:
    ABCC3:c.-211C>T
    Gene:
    ABCC3
    Genomic location:
    dbSNP ID:
    Target disease:
    Acute Myeloid Leukemia(DOID_9119)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P<0.05 
    Effect:
    We found that the ABCC3 C-211T polymorphism and GSTM1 null genotype have adverse prognostic significance in AML.
    Reference:
    PMID18207572
    Title:
    Polymorphisms in transporter and phase II metabolism genes as potential modifiers of the predisposition to and treatment outcome of de novo acute myeloid leukemia in Israeli ethnic groups.
    Species studied:
    Human
    Abstract:
    Drug metabolism/disposition and transporter genes may influence predisposition or prognosis of AML (acute myeloid leukemia) patients. We analyzed polymorphisms in 3 transporters and 4 drug metabolism genes in 293 Israeli individuals (112 AML patients and 181 controls). We analyzed: ABCC3 (MRP3) C-211T; ABCG2 (BCRP) C421A; CNT1 (SLC28A1) G565A and NAT1, NAT2, and GSTT1 and GSTM1 null alleles for influence on predisposition, as well as treatment response and survival. We found that the ABCC3 C-211T polymorphism and GSTM1 null genotype have adverse prognostic significance in AML. None of the other polymorphisms studied were found to influence either predisposition or prognosis in Israeli AML patients.