title: CYP2A13 genetic polymorphism in French Caucasian, Gabonese and Tunisian populations.
abstract: Since human CYP2A13 is expressed in the respiratory tract and is involved in the activation of tobacco-specific nitrosamines, some of the previously reported sequence variations may contribute to inter-individual and inter-ethnic differences in the susceptibility of tobacco-related tumorigenesis. The aim was to compare the frequencies of the 578C > T (Arg101Stop), 3375C > T (Arg257Cys) and 7520C > G (3'-untranslated region) mutations in several populations. The frequencies of the 578C > T polymorphism were 3.8, 0 and 1.0% in French Caucasians, Gabonese and Tunisians, respectively. In the same populations, the frequencies of the 3375C > T mutation were 0, 15.3 and 4.2%, respectively, whereas the frequencies of the 7520C > G mutation were 1.0, 20.8 and 7.3%, respectively. Marked inter-ethnic variations in CYP2A13 were identified and confirmed. These findings provide data for further studies that associate CYP2A13 haplotypes with an incidence of smoking-related tumours in respect of ethnicity.
authors.affiliation: Equipe d'accueil 2679, Faculté de Médecine de Lille, Pôle Recherche, Lille, France. ccauff@yahoo.com
authors.forename: C
authors.initials: C
authors.lastname: Cauffiez
authors.forename: N
authors.initials: N
authors.lastname: Pottier
authors.forename: G
authors.initials: G
authors.lastname: Tournel
authors.forename: J-M
authors.initials: JM
authors.lastname: Lo-Guidice
authors.forename: D
authors.initials: D
authors.lastname: Allorge
authors.forename: D
authors.initials: D
authors.lastname: Chevalier
authors.forename: F
authors.initials: F
authors.lastname: Migot-Nabias
authors.forename: A
authors.initials: A
authors.lastname: Kenani
authors.forename: F
authors.initials: F
authors.lastname: Broly
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D044383:Black People; D018388:Codon, Terminator / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D009369:Neoplasms / Q000139:chemically induced / Q000235:genetics; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012907:Smoking / Q000009:adverse effects / Q000235:genetics; D044465:White People
chemical_list: D020413:3' Untranslated Regions; D018388:Codon, Terminator; D001189:Aryl Hydrocarbon Hydroxylases; C414206:CYP2A13 protein, human