Vnitr Lek 2016, 62(4):281-286

Prothrombin gene 20210A mutation in Slovak population

Juraj Chudej*, Ivana Plameňová
Department of Haematology and Transfusion Medicine, National Centre for Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Slovakia

Introduction:
Factor V Leiden (FVL) and prothrombin G20210A mutation (PTM) are the two most common genetic polymorphisms known to predispose to a first episode of venous thromboembolism (VTE). PTM is present in 2 % Caucasian population. The main aim of this study was to identify the PTM in the patients with positive history of thrombotic events vs. control subjects.

Materials and Methods:
The assessment of PTM was performed by the PCR analysis of the chromosomal DNA, which was isolated from the peripheral blood leukocytes.

Results:
Of the 2 274 patients included, 157 (6.9 %) were carriers of the PTM. The mutation was present only in 2.6 % (n = 8) of the 303 controls. The following clinical manifestations of PTM were analysed. We observed 123 venous thrombotic events, 46 arterial thrombosis and 14 spontaneous abortions. In this article we analyse other possible risk factors for thromboembolic events in patients with carriage of PTM.

Conclusions:
To our knowledge, this is the largest epidemiological study of PTM in Central Europe. Employing statistical analysis, we found relatively high prevalence of the PTM in both, the patients with positive thrombosis history (6.9 %), as well as in the control group (2.6 %). The risk of thrombosis by carriage of PTM is independent of age and gender. Study has shown relatively frequent presence of double carriership of PTM and factor V Leiden mutation (FVL).

Keywords: mutation; population; prothrombin; thrombophilia; thrombosis

Received: July 9, 2015; Accepted: February 1, 2016; Published: April 1, 2016  Show citation

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Chudej J, Plameňová I. Prothrombin gene 20210A mutation in Slovak population. Vnitr Lek. 2016;62(4):281-286.
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