title: Factor V Leiden (FVQ 506) is common in a Brazilian population.
abstract: Resistance to activated protein C (APC) is the most common risk factor in venous thrombosis. A missense mutation in the factor V gene (factor V Leiden) is the molecular basis for this phenotype. Factor V Leiden was previously found in about 20% of unselected patients with thrombosis but also occurred in 3-5% of healthy Dutch controls. In the present study of Brazilian patients with venous thrombosis we also observed a frequency of 20% for this factor. In addition, in healthy Brazilian controls the frequency of the mutation was 2%. These data suggest that factor V Leiden has a similar distribution worldwide irrespective of the ethnic origin of the population.
authors.affiliation: Hematology-Hemotherapy Center, State University of Campinas, UNICAMP, SP, Brazil.
authors.forename: V R
authors.initials: VR
authors.lastname: Arruda
authors.forename: J M
authors.initials: JM
authors.lastname: Annichino-Bizzacchi
authors.forename: F F
authors.initials: FF
authors.lastname: Costa
authors.forename: P H
authors.initials: PH
authors.lastname: Reitsma
mesh_terms: D001483:Base Sequence; D001938:Brazil; D004247:DNA / Q000097:blood / Q000737:chemistry; D004351:Drug Resistance; D004789:Enzyme Activation; D005165:Factor V / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009426:Netherlands / Q000208:ethnology; D011486:Protein C / Q000494:pharmacology; D013924:Thrombophlebitis / Q000235:genetics
chemical_list: D011486:Protein C; D005165:Factor V; D004247:DNA