Prothrombin G20210A, factor V Leiden, and factor XIII Va134Leu: Common mutations of blood coagulation factors and deep vein thrombosis in Austria

Mutations in the gene for prothrombin (F2 20210A) and factor V (F5 1691A, f actor V Leiden) are established risk factors for deep venous thrombosis (DV T). 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 a nd 308 sex- and age-matched control subjects. Allele frequencies of F2 2021 0A, F5 1691A, and F13 100T were 0.018, 0.039, and 0.274 among controls, and 0.045 (p = 0.026), 0.120 (p<0.0001), and 0.211 (p = 0.045) 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 increas e the risk for DVT, whereas F13 100T is associated with a decreased risk fo r DVT. Routinely, analysis of these mutations may help to analyze the indiv idual risk for DVT. (C) 2000 Elsevier Science Ltd. All rights reserved.