title: The frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma (Gypsy) ethnic group of Eastern Slovakia.
abstract: Factor V Leiden and prothrombin G20210A are the two most prevalent causes of inherited thrombophilia. The prevalence of these mutations varies widely in healthy Caucasian population. The aim of our study was to determine the frequency of factor V Leiden and prothrombin G20210A mutations in Slovak and Roma ethnic group from Eastern Slovakia. We analyzed 540 asymptomatic individuals (269 individuals of Slovak ethnicity and 271 individuals of Roma ethnicity) by real-time PCR method. The detected allele frequencies were 2.97 versus 6.64 % for factor V Leiden (p = 0.0049), and 0.74 versus 0.92 % for prothrombin mutation (p = 0.7463) in Slovak and Roma population, respectively. The Roma ethnic group had significantly higher prevalence of factor V Leiden mutation when compared to Slovak ethnic group. The allele frequency of factor V Leiden in ethnic Romanies from Eastern Slovakia was one of the highest in Europe. Our results confirm an uneven geographical and ethnic distribution of factor V Leiden.
authors.affiliation: Excellence Centre of Animal and Human Ecology, Faculty of Humanities and Natural Sciences, University of Prešov, 17 Novembra 1, 08116, Prešov, Slovakia. bozikova@unipo.sk
authors.forename: Alexandra
authors.initials: A
authors.lastname: Bôžiková
authors.forename: Dana
authors.initials: D
authors.lastname: Gabriková
authors.forename: Adriana
authors.initials: A
authors.lastname: Sovičová
authors.forename: Regina
authors.initials: R
authors.lastname: Behulová
authors.forename: Soňa
authors.initials: S
authors.lastname: Mačeková
authors.forename: Iveta
authors.initials: I
authors.lastname: Boroňová
authors.forename: Eva
authors.initials: E
authors.lastname: Petrejčíková
authors.forename: Miroslav
authors.initials: M
authors.lastname: Soták
authors.forename: Jarmila
authors.initials: J
authors.lastname: Bernasovská
authors.forename: Ivan
authors.initials: I
authors.lastname: Bernasovský
mesh_terms: D020016:Activated Protein C Resistance / Q000208:ethnology / Q000235:genetics*; D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D006178:Romani People; D018154:Slovakia / Q000208:ethnology; D019851:Thrombophilia / Q000208:ethnology / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin