title: Prothrombin G20210A, factor V Leiden, and factor XIII Val34Leu: common mutations of blood coagulation factors and deep vein thrombosis in Austria.
abstract: Mutations in the gene for prothrombin (F2 20210A) and factor V (F5 1691A, factor V Leiden) are established risk factors for deep venous thrombosis (DVT). Recently, a mutation in the gene for factor XIII (F13 100T) leading to a Valine-Leucine exchange at amino acid position 34 has been reported to be protective against DVT. To analyze the role of these mutations for DVT in Austria, we analyzed their prevalence in 154 patients with documented DVT and 308 sex- and age-matched control subjects. Allele frequencies of F2 20210A, F5 1691A, and F13 100T were 0.018, 0.039, and 0.274 among controls, and 0.045, 0.120, and 0.211 among patients, respectively. Odds ratios for DVT associated with F2 20210A, F5 1691A, and F13 100T alleles were 2.5 (95% CI: 1.1-5.7), 3.4 (95% CI: 1.9-5.8), and 0.7 (95% CI: 0.5-1.0). We conclude that F2 20210A, F5 1691A, and F13 100T are common mutations in the Austrian population. F2 20210A and F5 1691 increase the risk for DVT, whereas F13 100T is associated with a decreased risk for DVT. Routinely, analysis of these mutations may help to analyze the individual risk for DVT.
authors.affiliation: Division of Angiology, Department of Medicine, Karl Franzens University Graz, Graz, Austria. wilfried.renner@kfunigraz.ac.at
authors.forename: W
authors.initials: W
authors.lastname: Renner
authors.forename: H
authors.initials: H
authors.lastname: Köppel
authors.forename: C
authors.initials: C
authors.lastname: Hoffmann
authors.forename: K
authors.initials: K
authors.lastname: Schallmoser
authors.forename: O
authors.initials: O
authors.lastname: Stanger
authors.forename: H
authors.initials: H
authors.lastname: Toplak
authors.forename: T C
authors.initials: TC
authors.lastname: Wascher
authors.forename: E
authors.initials: E
authors.lastname: Pilger
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D001317:Austria; D001779:Blood Coagulation Factors / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D005176:Factor XIII / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D016555:Matched-Pair Analysis; D008875:Middle Aged; D017354:Point Mutation; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics*; D012044:Regression Analysis; D012307:Risk Factors; D020246:Venous Thrombosis / Q000150:complications / Q000453:epidemiology / Q000235:genetics
chemical_list: D001779:Blood Coagulation Factors; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D005176:Factor XIII