Association of CFTR gene mutation with bronchial asthma.
Mutation on both the copies of cystic fibrosis transmembrane conductance regulator (CFTR) gene results in cystic fibrosis (CF), which is a recessively transmitted genetic disorder. It is hypothesized that individuals heterozygous for CFTR gene mutation may develop obstructive pulmonary diseases like asthma. There is great heterogeneity in the phenotypic presentation and severity of CF lung disease. This could be due to genetic or environmental factors. Several modifier genes have been identified which may directly or indirectly interact with CFTR pathway and affect the severity of disease. This review article discusses the information related to the association of CFTR gene mutation with asthma. Association between CFTR gene mutation and asthma is still unclear. Report ranges from studies showing positive or protective association to those showing no association. Therefore, studies with sufficiently large sample size and detailed phenotype are required to define the potential contribution of CFTR in the pathogenesis of asthma.
Department of Pediatrics, Chhatrapati Shahuji Maharaj Medical University, Lucknow, India.
Nutan
N
Maurya
Shally
S
Awasthi
Pratibha
P
Dixit
D001249:Asthma / Q000235:genetics* / Q000473:pathology; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D060045:Genes, Modifier; D006579:Heterozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator