Abstract
The cystic fibrosis transmembrane conductance regulator (CFTR) is the affected protein in cystic fibrosis (CF). The high rate of CF carriers has led to speculation that there must be, similar to the sickle cell haemoglobin advantage in malaria, a selective advantage for heterozygotes. Such a selective advantage may be conferred through reduced attachment of Salmonella typhi to intestinal mucosa, thus providing resistance to typhoid fever. We tested this hypothesis by genotyping patients and controls in a typhoid endemic area in Indonesia for two highly polymorphic markers in CFTR and the most common CF mutation. We found an association between genotypes in CFTR and susceptibility to typhoid fever (OR=2.6). These analyses suggest that the role CFTR plays in vitro in S. typhi infection is also important for infection in the human population.
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Acknowledgements
We thank all patients, their families and population controls that participated in this study. We thank the physicians, nurses and technicians of the participating health centers in Jakarta for their cooperation. Financial support was provided by the Royal Netherlands Academy of Arts and Sciences (KNAW).
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van de Vosse, E., Ali, S., Visser, A.W.d. et al. Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR). Hum Genet 118, 138–140 (2005). https://doi.org/10.1007/s00439-005-0005-0
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DOI: https://doi.org/10.1007/s00439-005-0005-0