Variant "NPC1L1:c.1681+1G>A"
Search result: 1 record
Variant information
Gene:
NPC1L1 
Variant:
NPC1L1:c.1681+1G>A 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Coronary Artery Disease (DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR for carriers, 0.47; 95% CI: 0.25 to 0.87; P=0.008 
    Effect:
    Carriers of any NPC1L1 inactivating mutation had a mean LDL cholesterol level that was 12 mg per deciliter lower than the level in noncarriers, along with a 53% lower risk of coronary heart disease.
    Reference:
    PMID25390462
    Title:
    Inactivating mutations in NPC1L1 and protection from coronary heart disease.
    Species studied:
    Human
    Abstract:
    Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that drug.