Variant "CFH:p.Tyr402His"
Search result: 1 record
Variant information
Gene:
CFH 
Variant:
CFH:p.Tyr402His 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered susceptibility(1)  
Detail：
  • Target disease:
    Abnormality Of The Cardiovascular System (HP:0001626)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    HR=0.67, 95% CI: 0.51-0.87; P=0.003 
    Effect:
    The Y402H CFH variant was inversely associated with susceptibility to CVD
    Reference:
    PMID19098018
    Title:
    Complement factor H Y402H decreases cardiovascular disease risk in patients with familial hypercholesterolaemia.
    Species studied:
    Human
    Abstract:
    Activation of the complement system seems an important link between inflammation and atherogenesis. The Y402H polymorphism of complement factor H (CFH) has been associated with cardiovascular events, but results are conflicting and possibly modified by age of onset of cardiovascular disease (CVD).