Abstract
Purpose: Cystic fibrosis (CF) is a lethal genetic disorder affecting secretory epithelia, caused by mutations on the CFTR gene. In this paper we study the interactivity between the CFTR gene and CF disease over the time course of CF.
Method: Cross-sectional analysis of CF patient population data from Latin-America, Canada, and The Netherlands, under the assumption that they represent stationary populations, was used to determined and correlates hazard rates, average cores and CF progression rates.
Results: Results suggests the existence of two phases throughout the course of CF.
Conclusion: While the initial phase was related to the CFTR genotype, the kinetics of the second phase seems to be common to all groups considered. The hypothesis that the interactivity between the CFTR gene and CF disease would be limited in time is presented, suggesting that mutant CFTR would trigger a disease that evolves to become independent from the CFTR gene itself.
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Masciovecchio, M., Gabbarini, J., Vega, M. et al. The interactivity between the CFTR gene and cystic fibrosis would be limited to the initial phase of the disease. Genet Med 2, 124–130 (2000). https://doi.org/10.1097/00125817-200003000-00002
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DOI: https://doi.org/10.1097/00125817-200003000-00002