Association of hemostasis system gene variants with gestational venous thrombosis in women with aggravated reproductive history

Cover Page


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

Background: Venous thrombosis is a multifactorial disease manifested by the hemostasis system overactivation. Gestational venous thrombosis is one of hemostasis disorders . It can lead to various pregnancy complications. That is why it is important to consider the etiopathogenesis of this condition, including the hereditary factors.

Aim: The study aimed to investigate the association of blood coagulation genes variants with venous thrombosis in pregnancy in women with aggravated reproductive history.

Materials and methods: the study included 311 women aged 18 to 39 years who had at least 1 pregnancy with aggravated reproductive history and gestational venous thrombosis of various localizations detected during the gravid period; as well as 225 controls. The genotypes of selected genetic variants were investigated by real-time polymerase chain reaction with melting curve analysis.

Results: The association was detected for 4 genetic variants: F2 20210 G>A, F5 1691 G>A, FGB −455 G>A, and PAI-1 −675 5G>4G. These genes encode plasma hemostasis factors. Therefore, this group factors are associated with the etiopathogenesis of gestational venous thrombosis in women with aggravated reproductive history.

Conclusion: Thus, we found an association of 4 plasma hemostasis factor genetic variants with hereditary predisposition to gestational venous thrombosis in women with aggravated reproductive history.

Full Text

Restricted Access

About the authors

Oleg A. Perevezentsev

Rostov State Medical University; V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children

Author for correspondence.
Email: PZPO@mail.ru
ORCID iD: 0000-0002-7070-3209
SPIN-code: 8400-2602

MD, Cand. Sci. (Medicine)

Russian Federation, Rostov-on-Don; Mosсow

Ilgar S. Mamedov

V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children

Email: is_mamedov@mail.ru
ORCID iD: 0000-0003-0783-2873
SPIN-code: 7171-2625

MD, Cand. Sci. (Medicine)

Russian Federation, Moscow

References

  1. Colman RW, Marder VJ, Clowes AW, et al. Hemostasis and thrombosis. Basic principles and clinical practice. Philadelphia: Lippincott; 2006.
  2. Buller HR, Sohne M, Middeldorp S. Treatment of venous thromboembolism. Journal of Thrombosis and Haemostasis. 2005;3(8):1554–60. doi: 10.1111/j.1538-7836.2005.01414.x
  3. Wells PS. Integrated strategies for the diagnosis of venous thromboembolism. Journal of Thrombosis and Haemostasis. 2007;5(1):41–50. doi: 10.1111/j.1538-7836.2007.02493.x
  4. Schellong SM. Distal DVT: worth diagnosing? Yes. Journal of Thrombosis and Haemostasis. 2007;5(1):51–54. doi: 10.1111/j.1538-7836.2007.02490.x
  5. Vasil’yev SA, Vinogradov VL. The role of heredity in the development of thrombosis. Thrombosis, hemostasis and rheology. 2007;3:3–14. (In Russ.) EDN: KZTXUH
  6. Shatalov AE, Petrov YuA. Thrombophilia as a factor in miscarriage. Health and Education Millennium. 2019;21(4):63–67. doi: 10.26787/nydha-2226-7425-2019-21-4-63-67
  7. Yarygin DN, Ignatiev SV, Butina EV, et al. Genetic polymorphisms associated with the risk of thrombophilia in women with recurrent miscarriage. Current issues of transfusiology and clinical medicine. 2015. (In Russ.)
  8. Arachchillage DRJ, Laffan M. Pathogenesis and management of antiphospholipid syndrome. British Journal of Haematology. 2017;178(2):181–195. doi: 10.1111/bjh.14632
  9. Skvortsova MYu, Podzolkova NM. Prevention of reproductive losses and complications of gestation in patients with miscarriage. Gynecology. 2010;12(1):40–42. (In Russ.) EDN: NBJVBJ
  10. PerésWingeyer S, Aranda F, Udry S, et al. Inherited thrombophilia and pregnancy loss. Study of an Argentinian cohort. Medicina Clínica. 2019;152(7):249–254. doi: 10.1016/j.medcli.2017.12.019
  11. Mahmutbegović E, Marjanović D, Medjedović E, et al. Prevalence of F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms in Bosnian women with pregnancy loss. Biomol Biomed. 2017;17(4):309–314. doi: 10.17305/bjbms.2017.1954
  12. Younis M, Ali MAM, Ghareeb DA, et al. Maternal Thrombophilic and Hypofibrinolytic Genetic Variants in Idiopathic Recurrent Pregnancy Loss: a Continuing Mystery. Reprod. Sci. 2023;30:656–666. doi: 10.1007/s43032-022-01063-1
  13. Pereza N, Ostojić S, Kapović M, Peterlin B. Systematic review and meta-analysis of genetic association studies in idiopathic recurrent spontaneous abortion. Fertility and Sterility. 2017;107(1):150–159.e2. doi: 10.1016/j.fertnstert.2016.10.007
  14. Sergi C, Al Jishi T, Walker M. Factor V Leiden mutation in women with early recurrent pregnancy loss: a meta-analysis and systematic review of the causal association. Arch Gynecol Obstet. 2015;291:671–679. doi: 10.1007/s00404-014-3443-x
  15. Dankova IV, Aleksandrovna MO, Borisovna TT, et al. Genetic and hemostasiological predictors of IVF pregnancy. Gynecological Endocrinology. 2017;33(1):32–35. doi: 10.1080/09513590.2017.1404237
  16. Jeddi-Tehrani M, Torabi R, Zarnani AH, et al. Analysis of Plasminogen Activator Inhibitor-1, Integrin Beta3, Beta Fibrinogen, and Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Women with Recurrent Pregnancy Loss. Am J Reprod Immunol. 2011;66(2):149–156. doi: 10.1111/j.1600-0897.2010.00974.x
  17. Goodman CS, Coulam CB, Jeyendran RS, et al. Which Thrombophilic Gene Mutations are Risk Factors for Recurrent Pregnancy Loss? Am J Reprod Immunol. 2006;56(4):230–236. doi: 10.1111/j.1600-0897.2006.00419.x
  18. Su MT, Lin SH, Chen YC, Kuo PL. Genetic association studies of ACE and PAI-1 genes in women with recurrent pregnancy loss: a systematic review and meta-analysis. Thromb Haemost. 2013;109(1):8–15. doi: 10.1160/TH12-08-0584
  19. Cho HY, Park HS, Ahn EH, et al. Association of Polymorphisms in Plasminogen Activator Inhibitor-1 (PAI-1), Tissue Plasminogen Activator (tPA), and Renin (REN) with Recurrent Pregnancy Loss in Korean Women. Journal of Personalized Medicine. 2021;11(12):1378. doi: 10.3390/jpm11121378
  20. Wen Y, He H, Zhao K. Thrombophilic gene polymorphisms and recurrent pregnancy loss: a systematic review and meta-analysis. J Assist Reprod Genet. 2023;40:1533–1558. doi: 10.1007/s10815-023-02823-x

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2024 Perevezentsev O.A., Mamedov I.S.

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ:  ПИ № ФС 77 - 86785 от 05.02.2024 (ранее — ПИ № ФС 77 - 59057 от 22.08.2014).