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Forschungsdatenbank PMU-SQQUID

Prothrombin G20210A, factor V Leiden, and factor XIII Val34Leu: common mutations of blood coagulation factors and deep vein thrombosis in Austria.
Renner, W; Köppel, H; Hoffmann, C; Schallmoser, K; Stanger, O; Toplak, H; Wascher, TC; Pilger, E;
Thromb Res. 2000; 99(1):35-39
Originalarbeiten (Zeitschrift)

PMU-Autor/inn/en

Schallmoser Katharina

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.


Useful keywords (using NLM MeSH Indexing)

Adolescent

Adult

Aged

Aged, 80 and over

Amino Acid Substitution

Austria

Blood Coagulation Factors/genetics

Factor V/genetics*

Factor XIII/genetics*

Female

Gene Frequency

Genetic Testing

Genotype

Humans

Male

Matched-Pair Analysis

Middle Aged

Point Mutation

Prevalence

Prothrombin/genetics*

Regression Analysis

Risk Factors

Venous Thrombosis/complications

Venous Thrombosis/epidemiology

Venous Thrombosis/genetics


Find related publications in this database (Keywords)

deep vein thrombosis
factor V
factor XIII
mutation
prothrombin
risk factor