Thrombosis Research 99 (2000) 35–39 ORIGINAL ARTICLE Prothrombin G20210A, Factor V Leiden, and Factor XIII Val34Leu: Common Mutations of Blood Coagulation Factors and Deep Vein Thrombosis in Austria Wilfried Renner, Herwig Ko ¨ ppel, Christine Hoffmann, Katharina Schallmoser, Olaf Stanger, Hermann Toplak, Thomas C. Wascher and Ernst Pilger Division of Angiology, Department of Medicine, Karl Franzens University Graz, Austria. (Received 24 November 1999 by Editor W. Muntean; revised/accepted 19 February 2000) associated with a decreased risk for DVT. Rou- Abstract tinely, analysis of these mutations may help to ana- lyze the individual risk for DVT.  2000 Elsevier Mutations in the gene for prothrombin (F2 Science Ltd. All rights reserved. 20210A) and factor V (F5 1691A, factor V Leiden) are established risk factors for deep venous throm- Key Words: Deep vein thrombosis; Factor V; Factor XIII; bosis (DVT). Recently, a mutation in the gene for Mutation; Prothrombin; Risk factor factor XIII (F13 100T) leading to a Valine–Leucine exchange at amino acid position 34 has been re- ported to be protective against DVT. To analyze S everal genetic factors are known to contrib- the role of these mutations for DVT in Austria, ute to the risk for deep venous thrombosis we analyzed their prevalence in 154 patients with (DVT) [1,2]. To current knowledge, the documented DVT and 308 sex- and age-matched most frequent mutation associated with DVT is a control subjects. Allele frequencies of F2 20210A, G→A exchange at nucleotide position 1691 of the F5 1691A, and F13 100T were 0.018, 0.039, and gene for factor V (factor V Leiden, F5 1691A), 0.274 among controls, and 0.045 (p=0.026), 0.120 leading to resistance of factor V to activated pro- (p0.0001), and 0.211 (p=0.045) among patients, tein C [3,4]. F5 1691A is associated with an odds respectively. Odds ratios for DVT associated with ratio (OR) for DVT of about 5 [5]. Another impor- F2 20210A, F5 1691A, and F13 100T alleles were tant mutation involved in the etiology of DVT is 2.5 (95% CI: 1.1–5.7), 3.4 (95% CI: 1.9–5.8), and aG→A exchange at nucleotide position 20210 of 0.7 (95% CI: 0.5–1.0). We conclude that F2 20210A, the prothrombin gene (F2 20210A) [6]. This muta- F5 1691A, and F13 100T are common mutations tion in the 3' untranslated region of the gene is in the Austrian population. F2 20210A and F5 1691 believed to influence the regulation of prothrom- increase the risk for DVT, whereas F13 100T is bin expression and is associated with approxi- mately a threefold increased risk for DVT [6]. Recently, a G→T transition at nucleotide posi- Abbreviations: CI, confidence interval; DVT, deep vein thrombo- tion 100 of the gene for factor XIII (F13 100T) sis; F2, prothrombin; F5, factor V; F13, factor XIII; OR, odds ratio; PE, pulmonary embolism. leading to a Valine→Leucine exchange at amino Corresponding author: Wilfried Renner, Klinische Abteilung fu ¨r acid position 34 has been associated with a de- Angiologie, Medizinische Universita ¨ tsklinik, Auenbruggerplatz creased risk for myocardial infarction [7] and DVT 15, A-8036 Graz, Austria. Tel: +43 (316) 385 2911; Fax: +43 (316) 385 3788; E-mail: <wilfried.renner@kfunigraz.ac.at>. [8,9], and an increased risk for intracerebral hemor- 0049-3848/00 $–see front matter  2000 Elsevier Science Ltd. All rights reserved. PII S0049-3848(00)00219-X