Variant "MPO:c.G-463A"
Search result: 1 record
Variant information
Gene:
MPO 
Variant:
MPO:c.G-463A 
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:
    Sickle Cell Anemia (DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    P=0.0112 
    Effect:
    Here we present evidence to suggest that a polymorphism (G-463A MPO) in the gene encoding the myeloperoxidase (MPO) enzyme, important for the host defense system, may significantly increase susceptibility to infection in SCA.
    Reference:
    PMID15996936
    Title:
    Association of the G-463A myeloperoxidase polymorphism with infection in sickle cell anemia.
    Species studied:
    Human
    Abstract:
    Infections constitute a principal cause of morbidity and mortality in sickle cell anemia (SCA). Here we present evidence to suggest that a polymorphism (G-463A MPO) in the gene encoding the myeloperoxidase (MPO) enzyme, important for the host defense system, may significantly increase susceptibility to infection in SCA.