Asthma and pulmonary function abnormalities in heterozygotes for cystic fibrosis transmembrane regulator gene mutations

Int J Clin Exp Med. 2008;1(4):345-9. Epub 2008 Oct 27.


The aim of our study is to evaluate the association between CFTR gene mutations with asthma and pulmonary function abnormalities. For this purpose, 214 mutation carriers were compared to 185 non-carriers. Although the relative risk of asthma did not differ between groups (OR=0.61, 95% CI: 0.23-1.61, p=0.32), the values of FEV1, and FEV1/FVC ratio were lower in carriers (p=0.001, and p<0.001, respectively). This may imply that heterozygosity may be related with a silent obstructive pulmonary profile.

Keywords: Asthma; cystic fibrosis heterozygosity; cystic fibrosis transmembrane regulator gene mutations.