Mv. Masciovecchio et al., The interactivity between the CFTR gene and cystic fibrosis would be limited to the initial phase of the disease, GENET MED, 2(2), 2000, pp. 124-130
Purpose: Cystic fibrosis (CF) is a lethal genetic disorder affecting secret
ory 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 cours
e of CF. Method: Cross-sectional analysis of CF patient population data fro
m Latin-America, Canada, and The Netherlands, under the assumption that the
y represent stationary populations, was used to determined and correlates h
azard rates, average cores and CF progression rates. Results: Results sugge
sts the existence of two phases throughout the course of CF. Conclusion: Wh
ile 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 t
hat 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.