Variant "APOC3:c.148G>T(p.Val50Leu)"
Search results: 2 records
Variant information
Gene:
APOC3 
Variant:
APOC3:c.148G>T(p.Val50Leu) 
Genomic location:
chr11:116701581(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000040.1:c.148G>T(p.Val50Leu)
protein_coding NM_000039.2:c.*4943C>A
protein_coding NM_001318017.1:c.*4943C>A
protein_coding NM_001318018.1:c.*4943C>A
protein_coding NM_001318021.1:c.*4943C>A
dbSNP ID:
rs201803883  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Altered triglyceride level(1) ,Risk factor(1)  
Details：
  • Target disease:
    Ischemic Heart Disease (NCIT_C50625)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    HR=0.64; 95% CI: 0.41 to 0.99; P=0.04 
    Effect:
    The cumulative incidences of ischemic vascular disease and ischemic heart disease were reduced in heterozygotes as compared with noncarriers of APOC3 mutations (P=0.009 and P=0.05, respectively), with corresponding risk reductions of 41% (hazard ratio, 0.59; 95% CI, 0.41 to 0.86; P=0.007) and 36% (hazard ratio, 0.64; 95% CI, 0.41 to 0.99; P=0.04)
    Reference:
    PMID24941082
    Title:
    Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.
    Species studied:
    Human
    Abstract:
    High plasma levels of nonfasting triglycerides are associated with an increased risk of ischemic cardiovascular disease. Whether lifelong low levels of nonfasting triglycerides owing to mutations in the gene encoding apolipoprotein C3 (APOC3) are associated with a reduced risk of ischemic cardiovascular disease in the general population is unknown.
  • Target disease:
    Ischemic Heart Disease (NCIT_C50625)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered triglyceride level 
    Evidence:
    P<0.001 
    Effect:
    Heterozygosity for loss-of-function mutations in APOC3, as compared with no APOC3 mutations, was associated with a mean reduction in nonfasting triglyceride levels of 44% (P<0.001).
    Reference:
    PMID24941082
    Title:
    Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.
    Species studied:
    Human
    Abstract:
    High plasma levels of nonfasting triglycerides are associated with an increased risk of ischemic cardiovascular disease. Whether lifelong low levels of nonfasting triglycerides owing to mutations in the gene encoding apolipoprotein C3 (APOC3) are associated with a reduced risk of ischemic cardiovascular disease in the general population is unknown.