Gene "CFH"
Found 2 records
Gene information
Gene symbol:
CFH
See related:
Ensembl: ENSG00000000971, Gene ID: 3075
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
2 
Vriant:
2 
Reference:
2 
Effect type:
Expressivity(1) ,Penetrance(1)  
Modifier effect:
Altered susceptibility(1) ,Altered incidence(1)  
Details：
  • Variant 1:
    CFH:p.Tyr402His
    Gene:
    CFH
    Genomic location:
    dbSNP ID:
    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).
  • Variant 2:
    CFH:c.1204C>T(p.Tyr402His)
    Gene:
    CFH
    Genomic location:
    dbSNP ID:
    rs1061170
    Target disease:
    Systemic Inflammatory Response Syndrome(EFO_1001478)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    P<0.005 
    Effect:
    The complement factor H Y402H variant allele is protective
    Reference:
    PMID20351616
    Title:
    Genetic variability in complement activation modulates the systemic inflammatory response syndrome in children.
    Species studied:
    Human
    Abstract:
    To determine the impact of genetic variability in complement activation on early development of the systemic inflammatory response syndrome (SIRS) in general pediatric critical care.