Variant "PCSK9:p.Leu28*"
Search result: 1 record
Variant information
Gene:
PCSK9 
Variant:
PCSK9:p.Leu28* 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered plasma levels of LDL cholesterol(1)  
Detail：
  • Target disease:
    Coronary Artery Disease (DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered plasma levels of LDL cholesterol 
    Evidence:
    These mutations were associated with a 28 percent reduction in mean ldl cholesterol and an 88 percent reduction in the risk of chd (p=0.008 for the reduction; hazard ratio, 0.11; 95 percent confidence interval, 0.02 to 0.81; p=0.03) 
    Effect:
    Reduce plasma levels of LDL cholesterol on the incidence of coronary events in a large population
    Reference:
    PMID16554528
    Title:
    Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.
    Species studied:
    Human
    Abstract:
    A low plasma level of low-density lipoprotein (LDL) cholesterol is associated with reduced risk of coronary heart disease (CHD), but the effect of lifelong reductions in plasma LDL cholesterol is not known. We examined the effect of DNA-sequence variations that reduce plasma levels of LDL cholesterol on the incidence of coronary events in a large population.