Published 2021
0 views Journal article

Clinical and Molecular Study of Common Thrombophilia Mutation Prothrombin G20210A.

Creators

  • 1. Unit of Orofacial Genetics, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
  • 2. National and Kapodistrian University of Athens
  • 3. Department of Molecular Genetics, Cephalogenetics Center, Athens, Greece.
  • 4. Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece.
  • 5. Laboratory of Genetics, Department of Biotechnology, Agricultural University of Laboratory of Molecular Endocrinology, Biomedical Research Foundation of the Academy of Athens, Athens, Greece.
  • 6. Faculty of Natural and Mathematical Sciences, King's College London, London, UK.
  • 7. King's College London
  • 8. University Research Institute of Maternal and Child Health and Precision Medicine and UNESCO Chair of Adolescent Health Care, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
  • 9. Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, Athens, Greece. ncosmidis@aua.gr.
  • 10. Unit of Orofacial Genetics, First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece. cyapi@med.uoa.gr.
  • 11. Department of Molecular Genetics, Cephalogenetics Center, Athens, Greece. cyapi@med.uoa.gr.
  • 12. University Research Institute of Maternal and Child Health and Precision Medicine and UNESCO Chair of Adolescent Health Care, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece. cyapi@med.uoa.gr.

Description

One of the most common genetic causes associated with thrombophilia is mutation G20210A of the coagulation factor II (F2) gene. Data collected from 355 unrelated Greeks examined for the mutation G20210A over a period of two decades were anonymously analyzed. The statistical analysis confirmed the importance of F2 G20210A in thrombosis and the significance of a positive family history of thrombosis. An interesting finding was the increased prevalence of G20210A in men with thrombotic events aged >40 years. This study highlighted the great value of a positive family history of thrombosis and the importance of testing for this common mutation as a putative prevention strategy and a future biomarker for thrombophilia. © 2021. The Author(s), under exclusive license to Springer Nature Switzerland AG.
Enabled by The Lens