Variant "CYP2C8:c.1196A>G(p.Lys399Arg)"
Search result: 1 record
Variant information
Gene:
CYP2C8 
Variant:
CYP2C8:c.1196A>G(p.Lys399Arg) 
Genomic location:
chr10:96798749(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000770.3:c.1196A>G(p.Lys399Arg)
protein_coding NM_001198853.1:c.986A>G(p.Lys329Arg)
protein_coding NM_001198855.1:c.986A>G(p.Lys329Arg)
protein_coding NM_001198854.1:c.890A>G(p.Lys297Arg)
dbSNP ID:
rs10509681  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Colorectal Cancer (DOID_9256)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.73, 95% CI: (0.56, 0.95) 
    Effect:
    The reduction in risk of colorectal cancer with regular NSAID use
    Reference:
    PMID16141797
    Title:
    No evidence that polymorphisms in CYP2C8, CYP2C9, UGT1A6, PPARdelta and PPARgamma act as modifiers of the protective effect of regular NSAID use on the risk of colorectal carcinoma.
    Species studied:
    Human
    Abstract:
    Regular continuous non-steroidal anti-inflammatory drug (NSAID) use has been associated with a reduction in risk of colorectal cancer. Our objective was to investigate whether or not a number of the polymorphic genes involved in the metabolism of NSAIDs, including cytochrome P450 s (CYPs), act as modifiers of this protective effect.