Combined genetic mutations have remarkable effect on deep venous thrombosis and/or pulmonary embolism occurence

Although deep vein thrombosis and thromboembolic diseases differ among various races, they are still important in our day. The difficulties in treatment and following-up of these diseases are caused by secret genetic mutations rather than predisposing factors. Between January 2011 and May 2013, pati...

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Bibliographic Details
Published in:Gene 2014-02, Vol.536 (1), p.171-176
Main Authors: Simsek, Erdal, Yesilyurt, Ahmet, Pinarli, Ferda, Eyerci, Nilnur, Ulus, A. Tulga
Format: Article
Language:English
Subjects:
Adult
Case-Control Studies
Deep venous thrombosis
Epistasis, Genetic - genetics
Factor V - genetics
Female
Genetic mutation
Genetic Predisposition to Disease
Humans
Incidence
Male
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Middle Aged
Mutation
Plasminogen Activator Inhibitor 1 - genetics
Prothrombin - genetics
Pulmonary embolism
Pulmonary Embolism - epidemiology
Pulmonary Embolism - genetics
Retrospective Studies
Venous Thrombosis - epidemiology
Venous Thrombosis - genetics
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Summary:Although deep vein thrombosis and thromboembolic diseases differ among various races, they are still important in our day. The difficulties in treatment and following-up of these diseases are caused by secret genetic mutations rather than predisposing factors. Between January 2011 and May 2013, patients who were traced for deep vein thrombosis and/or pulmonary embolism were evaluated retrospectively. 84 patients (53.6% males and 46.4% females) were included in the study. Their family histories, predisposing factors and treatments were researched. Factor V Leiden (G 1691A), Factor II G20210A, Plasminogen Activator Inhibitor-Type 1 (4G/5G), and Methylene Tetrahydrofolate Reductase (C677T, A1298C) mutations were investigated from peripheral venous blood. Among the genetic mutations we searched, the incidence of single mutation rate was observed at 11.9%, double mutation collocation at 44%, triple mutation collocation at 29.8%, quadruple mutation collocation at 13.1%, and finally, quintuplet mutation collocation at 1.2%. Our approximate mutation number was found as 2.47±0.91. We observed that multiple mutations were high in number compared to single genetic mutations. The patients who have multiple mutations should be more in the front line considering their diagnosis, treatment and following up, and also in terms of decreasing mortality, morbidity and recurrence. •Predisposing factors alone are not responsible in the generation of DVT and VTE.•Genetic mutations trigger VTE formation with or without predisposing factors.•The combination of mutations stands out from single mutation in the VTE.•The frequency of combined mutations was found out to be higher than single mutations.•Factor V Leiden mutation didn't occur alone, but was observed with the others.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2013.11.019