Cystic fibrosis gene mutations and gastrointestinal diseases

Abstract 

Background

This study examined if CF mutation heterozygosity is associated with diseases of gastrointestinal epithelial barrier function.

Design and methods

Swedish registers identified 865 patients with a diagnosis of CF between 1968 and 2003 and matched with 8101 individuals without CF. Gastrointestinal disease risk was examined among 1534 biological parents and 1396 siblings of CF patients, compared with 15,526 parents and 15,542 siblings of individuals without CF.

Results

First-degree relatives of CF patients were not at lower risk of the gastrointestinal diseases, in contrast with a raised risk among CF patients.

Conclusion

Heterozygosity for CF gene mutations does not protect against gastrointestinal diseases where impaired barrier function may be relevant.

Keywords: Cystic fibrosis, Gene mutation, Gastrointestinal diseases, Barrier function