Variant "GSTM3:variant"
Search results: 2 records
Variant information
Gene:
GSTM3 
Variant:
GSTM3:variant 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
2 
Effect type:
Expressivity(1) ,Pleiotropy(1)  
Modifier effect:
Altered FEV1 level(1) ,Altered severity(1)  
Details：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Assessed by both mean values of fev1 and of fvc (respectively P=0.01 and P=0.002) 
    Effect:
    Polymorphism of the GSTM3 gene contributes to clinical severity in CF
    Reference:
    PMID15115915
    Title:
    Glutathione-S-transferase M1, M3, P1 and T1 polymorphisms and severity of lung disease in children with cystic fibrosis.
    Species studied:
    Human
    Abstract:
    Progression and severity of lung disease differs markedly and early between patients with cystic fibrosis (CF). We investigated the hypothesis that polymorphisms in the detoxifying enzymes glutathione-S-transferase (GST) could influence phenotypic presentation of lung disease in CF.
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Altered FEV1 level 
    Evidence:
    From review article 
    Effect:
    Higher mean percent predicted FEV1 and mean FVC associated with A/B and B/B genotypes
    Reference:
    PMID16124861
    Title:
    Modifier genetics: cystic fibrosis.
    Species studied:
    Human
    Abstract:
    Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in the Caucasian population, affecting about 30,000 individuals in the United States. The gene responsible for CF, the CF transmembrane conductance regulator (CFTR), was identified 15 years ago. Substantial variation in the many aspects of the CF phenotype among individuals with the same CFTR genotype demonstrates that factors independent of CFTR exert considerable influence on outcome in CF. To date, the majority of published studies investigating the cause of disease variability in CF report associations between candidate genes and some aspect of the CF phenotype. However, a definitive modifier gene for CF remains to be identified. Despite the challenges posed by searches for modifier effects, studies of affected twins and siblings indicate that genetic factors play a substantial role in intestinal manifestations. Identifying the factors contributing to variation in pulmonary disease, the primary cause of mortality, remains a challenge for CF research.