title: Prevalence of factor V Leiden mutation in various populations.
abstract: Resistance to activated protein C (APC) is the most common inherited risk factor for venous thrombosis. Most cases of APC resistance are caused by the point mutation nt 1691 G-A in factor V gene, referred to as factor V Leiden mutation. As initially shown in a Dutch population, this mutation has a carrier rate of 2.9%, the most frequent genetic disposition for thrombophilia and deep venous thrombosis. By large-scale epidemiological studies we have determined the prevalence of factor V Leiden mutation in populations from Poland (200), Argentina (215), Venezuela (126), Costa Rica (196), and India (150). The prevalences have been estimated for Poland (Warsaw) 5.0%, Argentina (Buenos Aires) 5.1%, Venezuela (Valencia) 1.6%, Costa Rica (San José) 2.0%, and India (Punjab) 1.3%. Based on worldwide distribution, it can be hypothesized that the factor V Leiden mutation has originated and accumulated in central European Caucasians and spread over the world by migration.
authors.affiliation: Institute of Human Genetics, University of Greifswald, Germany.
authors.forename: F H
authors.initials: FH
authors.lastname: Herrmann
authors.forename: M
authors.initials: M
authors.lastname: Koesling
authors.forename: W
authors.initials: W
authors.lastname: Schrŏder
authors.forename: R
authors.initials: R
authors.lastname: Altman
authors.forename: R
authors.initials: R
authors.lastname: Jiménez Bonilla
authors.forename: S
authors.initials: S
authors.lastname: Lopaciuk
authors.forename: J L
authors.initials: JL
authors.lastname: Perez-Requejo
authors.forename: J R
authors.initials: JR
authors.lastname: Singh
mesh_terms: D001118:Argentina / Q000453:epidemiology; D003364:Costa Rica / Q000453:epidemiology; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D005828:Genetics, Population; D005858:Germany / Q000453:epidemiology; D006579:Heterozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D017354:Point Mutation; D011044:Poland / Q000453:epidemiology; D015995:Prevalence; D011897:Random Allocation; D017678:Sex Distribution; D013924:Thrombophlebitis / Q000208:ethnology* / Q000235:genetics*; D014687:Venezuela / Q000453:epidemiology; D044465:White People
chemical_list: D005165:Factor V