title: Sequence analysis, frequency and ethnic distribution of VNTR polymorphism in the 5'-untranslated region of the human prostacyclin synthase gene (CYP8A1).
abstract: The prostacyclin synthase enzyme (CYP8A1, EC 5.3.99.4) is the unique member of family 8 in the cytochrome P450 superfamily. Inheritable interindividual differences in prostacyclin production may be implicated in the pathogenesis of human vascular diseases. Recently, we functionally characterized a variable number of tandem repeat (VNTR) polymorphism in the 5'-proximal regulatory region of CYP8A1. In this study, we extended the CYP8A1 VNTR polymorphism analysis using a panel of DNA samples from distinct ethnic populations: Tunisians, Gaboneses and French Caucasians. A total of nine VNTR were detected, three of which represent new variants in the CYP8A1 promoter region. Differences among the three ethnic panels in the frequency of the VNTR variants were observed. This study represents the first multi-population-based analysis of the frequency and distribution of VNTR polymorphism affecting the CYP8A1 promoter.
authors.affiliation: EA2679, Faculté de Médecine de Lille, Pĵle Recherche, Lille, France. dany.chevalier@caramail.com
authors.forename: Dany
authors.initials: D
authors.lastname: Chevalier
authors.forename: Delphine
authors.initials: D
authors.lastname: Allorge
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Lo-Guidice
authors.forename: Christelle
authors.initials: C
authors.lastname: Cauffiez
authors.forename: Caroline
authors.initials: C
authors.lastname: Lepetit
authors.forename: Florence
authors.initials: F
authors.lastname: Migot-Nabias
authors.forename: Abderaouf
authors.initials: A
authors.lastname: Kenani
authors.forename: Michel
authors.initials: M
authors.lastname: Lhermitte
authors.forename: Franck
authors.initials: F
authors.lastname: Broly
mesh_terms: D020121:5' Untranslated Regions; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005602:France; D005681:Gabon; D005787:Gene Frequency; D006801:Humans; D019746:Intramolecular Oxidoreductases / Q000235:genetics*; D018598:Minisatellite Repeats; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D014416:Tunisia
chemical_list: D020121:5' Untranslated Regions; D003577:Cytochrome P-450 Enzyme System; D019746:Intramolecular Oxidoreductases; C022461:prostacyclin synthetase