Variant "SERPINA1:c.4627G>A"
Search result: 1 record
Variant information
Gene:
SERPINA1 
Variant:
SERPINA1:c.4627G>A 
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:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Gene activity study 
    Effect:
    Deficiency of alpha 1-AT is not associated with more severe pulmonary disease in cystic fibrosis and may be associated with milder lung disease.
    Reference:
    PMID10195072
    Title:
    Alpha-1 antitrypsin deficiency alleles and severe cystic fibrosis lung disease.
    Species studied:
    Human
    Abstract:
    Alpha-1 antitrypsin (alpha 1-AT) is the most abundant proteinase inhibitor within the lung. We have recently reported the surprising observation that cystic fibrosis patients with mild to moderate deficiency of alpha 1-antitrypsin have significantly better pulmonary function than non-deficient patients. This study may have been biased as it did not include the most severely affected patients who have died in childhood or those who have undergone orthotopic lung transplantation. The prevalence of alpha 1-antitrypsin deficiency alleles in this most severely affected group of patients with cystic fibrosis was therefore assessed.