Variant "FCGR1A:c.500A>G(p.Arg131His)"
Search result: 1 record
Variant information
Gene:
FCGR1A 
Variant:
FCGR1A:c.500A>G(p.Arg131His) 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Idiopathic Pulmonary Fibrosis (DOID_0050156)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.03 
    Effect:
    The FcγRIIa R131H polymorphism affected the IPF severity and progression, supporting the involvement of immunological mechanisms in IPF pathogenesis.
    Reference:
    PMID20929558
    Title:
    Association of FcγRIIa R131H polymorphism with idiopathic pulmonary fibrosis severity and progression.
    Species studied:
    Human
    Abstract:
    A significant genetic component has been described for idiopathic pulmonary fibrosis (IPF). The R131H (rs1801274) polymorphism of the IgG receptor FcγRIIa determines receptor affinity for IgG subclasses and is associated with several chronic inflammatory diseases. We investigated whether this polymorphism is associated with IPF susceptibility or progression.