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.