Variant "DEFB1:c.-20G>A(rs11362)"
Search result: 1 record
Variant information
Gene:
DEFB1 
Variant:
DEFB1:c.-20G>A(rs11362) 
dbSNP ID:
rs11362  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Protective effect against severe pulmonary disease(1)  
Detail：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Penetrance 
    Modifier effect:
    Protective effect against severe pulmonary disease 
    Evidence:
    OR=0.28 
    Effect:
    DEFB1 is a candidate modifier gene of the CF pulmonary phenotype.
    Reference:
    PMID21077791
    Title:
    A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.
    Species studied:
    Human
    Abstract:
    The identification of cystic fibrosis (CF) patients who are at greater risk of lung damage could be clinically valuable. Thus, we attempted to replicate previous findings and verify the possible association between three single nucleotide polymorphisms (SNPs c.-52G>A, c.-44C>G and c.-20G>A) in the 5' untranslated region (5' UTR) of the β defensin 1 (DEFB1) gene and the CF pulmonary phenotype.