Gene "DEFB1"
Found 1 record
Gene information
Gene symbol:
DEFB1
See related:
Ensembl: ENSG00000164825, Gene ID: 1672
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Protective effect against severe pulmonary disease(1)  
Detail：
  • Variant 1:
    DEFB1:c.-20G>A(rs11362)
    Gene:
    DEFB1
    Genomic location:
    dbSNP ID:
    rs11362
    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.