title: Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR).
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.
authors.affiliation: Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. E.van_de_Vosse@LUMC.nl
authors.forename: Esther
authors.initials: E
authors.lastname: van de Vosse
authors.forename: Soegianto
authors.initials: S
authors.lastname: Ali
authors.forename: Adriëtte W
authors.initials: AW
authors.lastname: de Visser
authors.forename: Charles
authors.initials: C
authors.lastname: Surjadi
authors.forename: Suwandhi
authors.initials: S
authors.lastname: Widjaja
authors.forename: Albert M
authors.initials: AM
authors.lastname: Vollaard
authors.forename: Jaap T
authors.initials: JT
authors.lastname: van Dissel
mesh_terms: D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D011110:Polymorphism, Genetic; D014435:Typhoid Fever / Q000235:genetics*
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator