Frequency of Genetic Mutations Associated with Thromboembolism in the Western Black Sea Region

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  • Tug Esra
    Department of Medical Genetics, Abant Izzet Baysal University, Izzet Baysal Medical School, Turkey
  • Aydin Hatip
    Department of Medical Genetics, Abant Izzet Baysal University, Izzet Baysal Medical School, Turkey
  • Kaplan Ebru
    Department of Medical Genetics, Abant Izzet Baysal University, Izzet Baysal Medical School, Turkey
  • Dogruer Dilek
    Department of Medical Genetics, Abant Izzet Baysal University, Izzet Baysal Medical School, Turkey

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Description

Objective We aimed to determine the prevalences of important genetic causes of thromboembolism for the first time in the western Black Sea Region of Turkey.<br> Patients and Methods One hundred and eighty-eight patients diagnosed early with thrombophilia were included in the study. The samples were genotyped using real-time LightCycler.<br> Results Of the 188 patients, 179 (95.2%) had one or more mutations. The frequencies of Factor V (FV) Leiden (FVL, G1691A), FV H1299R (A1299G), Factor II (FII G20210A), methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C were 11.7%, 5.6%, 2.5%, 30.4% and 39.1%, respectively. FV1691A was commonly represented in deep venous thrombosis (34.2%). The highest frequencies of FV1299G and FII20210A were in the vascular headache and deep venous thrombosis groups (10% and 10.5%, respectively). MTHFR677T was common in the pulmonary embolism (37%). MTHFR1298C frequency was 55.9% in recurrent abortus. Within-group comparisons yielded significant differences in the distributions of the FVL and FV H1299R mutations (p=0.002 and p=0.039, respectively).<br> Conclusion There were significant positive associations between venous thromboembolism and FVL and FV H1299R. FVL mutation in DVT may be an important predisposing factor that needs to be tested routinely in this population.<br>

Journal

  • Internal Medicine

    Internal Medicine 50 (1), 17-21, 2011

    The Japanese Society of Internal Medicine

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