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Gene. 2014 Feb 15;536(1):171-6. doi: 10.1016/j.gene.2013.11.019. Epub 2013 Dec 12.

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

Author information

  • 1Turkiye Yuksek Ihtisas Training and Research Hospital, Department of Cardiovascular Surgery, Ankara, Turkey. Electronic address: erdaldr@yahoo.com.
  • 2Diskapi Yildirim Beyazit Training and Research Hospital, Department of Stem Cell and Genetic Diagnostic Center, Diskapi, Ankara, Turkey. Electronic address: dryesilyurt@hotmail.com.
  • 3Diskapi Yildirim Beyazit Training and Research Hospital, Department of Stem Cell and Genetic Diagnostic Center, Diskapi, Ankara, Turkey. Electronic address: ferdapinarli@yahoo.com.
  • 4Diskapi Yildirim Beyazit Training and Research Hospital, Department of Stem Cell and Genetic Diagnostic Center, Diskapi, Ankara, Turkey. Electronic address: helezon2003@gmail.com.
  • 5Turkiye Yuksek Ihtisas Training and Research Hospital, Department of Cardiovascular Surgery, Ankara, Turkey. Electronic address: uluss@yahoo.com.

Abstract

PURPOSE:

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.

METHODS:

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.

RESULTS:

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.

CONCLUSION:

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.

Copyright © 2013 Elsevier B.V. All rights reserved.

KEYWORDS:

CTPA; DVT; Deep venous thrombosis; FV; FVL; Factor V; Factor V Leiden; Genetic mutation; MTHFR; Methylene Tetrahydrofolate Reductase; PAI-1; PE; PTM; Plasminogen Activator Inhibitor-Type 1; Pulmonary embolism; VTE; computed tomographic pulmonary angiography; deep venous thrombosis; prothrombin gene; pulmonary embolism; venous thromboembolism

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PMID:
24334115
[PubMed - indexed for MEDLINE]
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