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Miyata T, Maruyama K, Banno F, et al. Thrombophilia in East Asian countries: are there any genetic differences in these countries?. Thromb J. 2016;14:25doi: 10.1186/s12959-016-0109-x.
Miyata, T., Maruyama, K., Banno, F., & Neki, R. (2016). Thrombophilia in East Asian countries: are there any genetic differences in these countries?. Thrombosis journal, 1425. https://doi.org/10.1186/s12959-016-0109-x
Miyata, Toshiyuki, et al. "Thrombophilia in East Asian countries: are there any genetic differences in these countries?." Thrombosis journal vol. 14 (2016): 25. doi: https://doi.org/10.1186/s12959-016-0109-x
Miyata T, Maruyama K, Banno F, Neki R. Thrombophilia in East Asian countries: are there any genetic differences in these countries?. Thromb J. 2016 Oct 04;14:25. doi: 10.1186/s12959-016-0109-x. eCollection 2016. PMID: 27766051; PMCID: PMC5056495.
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Thromb J. 2016 Oct 04;14:25. doi: 10.1186/s12959-016-0109-x. eCollection 2016.

Thrombophilia in East Asian countries: are there any genetic differences in these countries?.

Thrombosis journal

Toshiyuki Miyata, Keiko Maruyama, Fumiaki Banno, Reiko Neki

Affiliations

  1. Department of Cerebrovascular Medicine, National Cerebral and Cardiovascular Center, Suita, 5658565 Japan.
  2. Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, 5658565 Japan.
  3. Department of Food and Nutrition, Koriyama Women's University, Koriyama, 9638503 Japan.
  4. Division of Counseling for Medical Genetics, National Cerebral and Cardiovascular Center, Suita, 5658565 Japan ; Department of Perinatology and Gynecology, National Cerebral and Cardiovascular Center, Suita, 5658565 Japan.

PMID: 27766051 PMCID: PMC5056495 DOI: 10.1186/s12959-016-0109-x

Abstract

In recent years, genetic analyses of congenital deficiencies of three anticoagulant proteins, antithrombin, protein C (PC) and protein S (PS), in East Asian patients with venous thromboembolism (VTE) have greatly increased. The PS-K196E mutation is often identified in the Japanese population with an allelic frequency of 0.86 %, and a total of approximately 10,000 Japanese are estimated to be homozygotes. The heterozygotes show PS anticoagulant activities ranging from 40 to 110 %, and 16 % lower mean anticoagulant activity than that in wild-type individuals. Specific assay methods to identify carriers of this mutation have recently been developed. The mutation carriers are at risk of thrombosis during pregnancy but do not appear to be at risk for adverse pregnancy outcomes. To promote future research into this mutation and its relation to thrombosis, a thrombosis-prone mouse strain with the PS K196E mutation has been developed. We found the PS-K196E mutation and the heterozygous PS-deficiency in mice caused increased VTE, but did not cause aggravation of ischemic stroke, unlike factor V Leiden mutation. Importantly, the PS-K196E mutation is only identified in Japanese. This suggests that although East Asian populations including Japanese, Chinese, and Koreans are geographically and genetically close, the PS-K196E mutation seems to be Japanese-specific, suggesting that the mutation is a recent occurrence and fixed within the Japanese population. Some recurrent genetic mutations predisposing to VTE have been reported in Chinese and Korean populations. Although the genetic background for VTE is known to differ between populations with Caucasian descent and East Asian populations, some of the recurrent mutations differ even within the East Asian populations.

Keywords: East Asian; Genetic mutation; Pregnancy; Racial difference; Thromboembolism; Thrombophilia; Venous thrombosis

References

  1. Thromb Res. 2014 May;133(5):914-8 - PubMed
  2. Thromb Res. 2013 Aug;132(2):314-5 - PubMed
  3. Am J Hematol. 2004 May;76(1):8-13 - PubMed
  4. Thromb Haemost. 2013 Apr;109(4):614-24 - PubMed
  5. J Thromb Haemost. 2012 Jul;10(7):1453-5 - PubMed
  6. Thromb Res. 1993 Jun 1;70(5):395-403 - PubMed
  7. Int J Hematol. 2010 Oct;92(3):468-73 - PubMed
  8. J Thromb Haemost. 2014 Aug;12(8):1378-9 - PubMed
  9. Int J Hematol. 2010 Sep;92(2):302-5 - PubMed
  10. Thromb Res. 1998 Nov 15;92(4):181-7 - PubMed
  11. J Thromb Thrombolysis. 2014 Jan;37(1):56-65 - PubMed
  12. Haematologica. 2014 Mar;99(3):561-9 - PubMed
  13. Thromb Haemost. 1993 Aug 2;70(2):244-6 - PubMed
  14. Blood. 2015 Nov 5;126(19):2247-53 - PubMed
  15. PLoS One. 2012;7(4):e35773 - PubMed
  16. Nature. 1994 May 5;369(6475):64-7 - PubMed
  17. Nature. 2014 Apr 24;508(7497):469-76 - PubMed
  18. J Thromb Haemost. 2012 Oct;10(10):2019-26 - PubMed
  19. Blood. 1994 Feb 1;83(3):683-90 - PubMed
  20. PLoS One. 2015 Jul 17;10(7):e0133196 - PubMed
  21. Thromb Haemost. 1995 Nov;74(5):1381-2 - PubMed
  22. Blood Coagul Fibrinolysis. 2012 Jan;23(1):56-63 - PubMed
  23. Blood. 2006 Feb 15;107(4):1737-8 - PubMed
  24. Int J Hematol. 2011 Aug;94(2):150-5 - PubMed
  25. Thromb Res. 2009 May;124(1):14-8 - PubMed
  26. Am J Hematol. 2013 Oct;88(10):899-905 - PubMed
  27. Proc Natl Acad Sci U S A. 1993 Feb 1;90(3):1004-8 - PubMed
  28. Nature. 2010 Oct 28;467(7319):1061-73 - PubMed
  29. J Thromb Haemost. 2006 Sep;4(9):2010-3 - PubMed
  30. Clin Biochem. 2005 Oct;38(10):908-15 - PubMed
  31. Int J Hematol. 2006 Apr;83(3):217-23 - PubMed

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