Variant "GCLC:c.-3506A>G"
Search results: 2 records
Variant information
Gene:
GCLC 
Variant:
GCLC:c.-3506A>G 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Altered severity(2)  
Details：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Balance testing accuracy=0.6824, P=0.008 
    Effect:
    Polymorphisms in genes associated with metabolism of GSH act on the CF's severity.
    Reference:
    PMID23758905
    Title:
    Genetic interaction of GSH metabolic pathway genes in cystic fibrosis.
    Species studied:
    Human
    Abstract:
    Cystic fibrosis (CF) is a monogenic disease caused by CFTR gene mutations, with clinical expression similar to complex disease, influenced by genetic and environmental factors. Among the possible modifier genes, those associated to metabolic pathways of glutathione (GSH) have been considered as potential modulators of CF clinical severity. In this way it is of pivotal importance investigate gene polymorphisms at Glutamate-Cysteine Ligase, Catalytic Subunit (GCLC), Glutathione S-transferase Mu 1 (GSTM1), Glutathione S-transferase Theta 1 (GSTT1), and Glutathione S-transferase P1 (GSTP1), which have been associated to the GSH metabolic pathway and CF clinical severity.
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.012 
    Effect:
    CF severity is associated with polymorphisms in GSH pathways and CFTR mutations
    Reference:
    PMID24593045
    Title:
    Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study.
    Species studied:
    Human
    Abstract:
    Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity.