Analysis haemostatic system gene polymorphism in pregnant women without complications from Russia and Ukraine

  • Authors: Vashukova E.S1, Glotov A.S1, Kanaeva M.D2, Polushkina L.B1, Shabanova N.A1, Tatarsky P.F3, Nosenko E.N4, Mertil B.4, Zhabchenko I.A5, Pokhitun M.V5, Livshits L.A3, Zainulina M.S1, Baranov V.S1
  • Affiliations:
    1. D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology , Saint-Petersburg, RF
    2. Saint-Petersburg State University., Saint-Petersburg, RF
    3. Institute of Molecular Biology and Genetics NASU, Kyiv, Ukraine
    4. Maxim Gorky Donetsk National Medical University, Donetsk, Ukraine
    5. Institute of Pediatrics, Obstetrics and Gynecology NAMSU, Kyiv, Ukraine
  • Issue: Vol 9, No 1 (2011)
  • Pages: 70-80
  • Section: Articles
  • URL: https://journals.eco-vector.com/ecolgenet/article/view/5745
  • DOI: https://doi.org/10.17816/ecogen9170-80
  • Cite item

Abstract


Polymorphism of F5 1691G>A, F2 20210G>A, FGB –455G>A, ITGB3 1565Т>С, PAI1 –675 5G>4G, MTHFR 677C>Т genes in pregnant women from Russia and Ukraine was studied by biochip methods. No differences in distribution of F5, F2 and ITGβ3 gene polymorphism were detected. Higher rates of –455G/A FGB and –675 5G/4G PAI1 genotypes in ukrainians compared to pregnant women from Russia were found. Also variable distribution of MTHFR gene polymorphism in women from different countries was registered. The complex approach based on the calculation of relative “score” as a sum of relevant genetic polymorphisms has detected somewhat elevated risk of trombophilia for pregnant women from Ukraine compared to this one from Russia. 

Elena S Vashukova

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology , Saint-Petersburg, RF

Email: vi_lena@list.ru 199034, Saint-Petersburg, Mendeleyevskaya line, 3, Russia

Andrey S Glotov

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology , Saint-Petersburg, RF

Email: anglotov@mail.ru 199034, Saint-Petersburg, Mendeleyevskaya line, 3, Russia

Maria D Kanaeva

Saint-Petersburg State University., Saint-Petersburg, RF

Email: kanaeva.masha@yandex.ru 199034, Saint-Petersburg, Universitetskaya nab, 7/9, Russia

Lubov B Polushkina

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology , Saint-Petersburg, RF

Email: iagmail@ott.ru

Nadezhda A Shabanova

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology , Saint-Petersburg, RF

Email: iagmail@ott.ru

Pavel F Tatarsky

Institute of Molecular Biology and Genetics NASU, Kyiv, Ukraine

Email: livshits@imbg.org.ua

Elena N Nosenko

Maxim Gorky Donetsk National Medical University, Donetsk, Ukraine

Email: iagmail@ott.ru

Beshir Mertil

Maxim Gorky Donetsk National Medical University, Donetsk, Ukraine

Email: babich@mama.dn.ua

Irina A Zhabchenko

Institute of Pediatrics, Obstetrics and Gynecology NAMSU, Kyiv, Ukraine

Marina V Pokhitun

Institute of Pediatrics, Obstetrics and Gynecology NAMSU, Kyiv, Ukraine

Ludmila A Livshits

Institute of Molecular Biology and Genetics NASU, Kyiv, Ukraine

Email: livshits@imbg.org.ua

Marina S Zainulina

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology , Saint-Petersburg, RF

Email: 199034, Russia, Saint Petersburg, 3, Mendeleyevskaya line

Vladislav S Baranov

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology , Saint-Petersburg, RF

Email: baranov@vb2475.spb.edu

  1. Баранов В. С., Баранова Е. В., Иващенко Т. Э. и др., 2000. Геном человека и гены «предрасположенности». Введение в предиктивную медицину. СПб.: Интермедика. 272 с.
  2. Вашукова Е. С., Глотов А. С., Иващенко Т. Э. и др., 2008. Современные подходы к диагностике наследственных форм тромбофилии//Российский педиатрический журнал. № 5. С. 48-53.
  3. Глотов А. С., Иващенко Т. Э., Образцова Г. И. и др., 2007. Зависимость между возникновением стабильной артериальной гипертензии у детей и полиморфизмом генов ренин-ангиотензиновой и кинин-брадики-ниновой систем на формирование//Молекулярная биология. Т. 41. № 1. С. 18-25.
  4. Глотов О. С., Глотов А. С., Тарасенко О. А. и др., 2004. Исследование функционально-значимого полиморфизма ACE, AGTR1, eNOS, MTHFR, MTRR и APOE генов в популяции Северо-Западного региона России//Экологическая генетика. Т. 2. № 3. С. 32-35.
  5. Долгушина Н. В., 2009. Патогенез и профилактика плацентарной недостаточности и синдрома потери плода у беременных с вирусными инфекциями: Автореф. дис. докт. мед. наук. Москва. 48 с.
  6. Зайнулина М. С., Корнюшина Е. А., Мозговая М. Л. и др., 2005. Тромбофилия в акушерской практике: учебно-методическое пособие/под ред. Э. К. Айламазяна, Н. Н. Петрищева. СПб.: Издательство Н-Л. 46 с.
  7. Капустин C. И., 2007. Молекулярно-генетические аспекты патогенеза венозного тромбоэмболизма: Автореф. дис. докт. мед. наук. СПб, 294 с.
  8. Макацария А. Д., Бицадзе В. О., 2006. Антифосфолипидный синдром, генетические тромбофилии в патогенезе основных форм акушерской патологии//РМЖ. Специальный выпуск. С. 2-11.
  9. Малышева О. В., Беспалова О. Н., Иващенко Т. Э. и др., 2007. Невынашивание беременности и полиморфизм генов системы свертывания крови//Журнал акушерства и женских болезней. Т. LVI. № 1. С. 21-27.
  10. Маниатис Т., Фрич Э., Сэмбрук Д., 1984. Молекулярное клонирование. -М.: Мир, 480 с.
  11. Москаленко М. В., Асеев М. В., Котова С. М. и др., 2004. Анализ ассоциации аллелей генов Col1A1, VDR и CALRC с развитием остеопороза//Экологическая генетика. Т. 2. № 1. С. 38-43.
  12. Спиридонова М. Г., Трифонова Е. А., Фадюши-на С. В. и др., 2007. Молекулярно-генетический анализ полиморфных маркеров генов, ответственных за функционирование факторов эндотелиальной системы в связи с осложненным течением беременности//Медицинская генетика. Т. 6. № 7. Вып. 61. С. 38-42.
  13. Фаворова О. О., Николаева Т. Я., Чугунова С. А. и др., 2007. Вклад генетических факторов в развитие артериальной гипертонии при разных типах инсуль-та у якутов//Кардиологический вестник. Т. 02. № 1. URL: http://www.consiliummedicum.com/magazines/magazines/cardio/cardiology/article/7238.
  14. Bertina R. M., Koeleman B. P., Koster T. et al., 1994. Mutation in blood coagulation factor V associated with resistance to activated protein C//Nature. Vol. 369. N 6475. P. 64-67.
  15. Camilleri R. S., Peebles D., Portmann C. et al., 2004. -455G/A b-fibrinogen gene polymorphism, factor V Leiden, prothrombin G20210A mutation and MTHFR C677T, and placental vascular complications//Blood Coagulation and Fibrinolysis. Vol. 15 N 2. P. 139-147.
  16. Cappuccio F., Bell R., Perry I. et al., 2002. Homocysteine levels in men and women of different ethnic and cultural background living in England.//Atherosclerosis. V. 164. N. 1. P. 95-102.
  17. Cook D. G., Cappuccio F. P., Atkinson R. W. et al., 2001. Ethnic differences in fibrinogen levels: the role of environmental factors and the β-fibrinogen gene//American Journal of Epidemiology. V. 153. N. 8. P. 799-806.
  18. Dekker G. A., de Vries JI. P., Doelitzsch P. M. et al., 1995. Underlying disorders associated with severe earlyonset preeclampsia//Am. J. Obstet. Gynecol. Vol. 173. P. 1042-1048.
  19. Fabbro D., D'Elia A. V., Spizzo R. et al., 2003. Association between plasminogen activator inhibitor 1 gene polymorphisms and preeclampsia//Gynecol Obstet Invest. Vol. 56. P. 17-22.
  20. Gehring N. H., Frede U., Neu-Yilik G., 2001. Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophilia//Nature Genet. V. 28. P. 389-392.
  21. Gerhardt A., Goecke T. W., Beckmann M. W. et al, 2005. The G20210A prothrombin-gene mutation and the plasminogen activator inhibitor (PAI-1) 5G/5G genotype are associated with early onset of severe preeclampsia//J Thrombosis and Haemostasis. Vol. 3. P. 686-691.
  22. Hakli T., Romppanen E. -L., Hiltunen M. et al., 2003. Plasminogen activator inhibitor-1 polymorphism in women with pre-eclampsia//Genetic testing. Vol. 7. N. 3. P. 265-268.
  23. Hiltunen L. M., Laivuori H., Rautanen A. et al., 2009. Factor V Leiden as risk factor for unexplained stillbirth -a population-based nested case-control study//Thrombosis Research (in press).
  24. Honda S., Honda Y., Bauer B. et al., 1995. The impact of three-dimensional structure on the expression of PlA alloantigens on human integrin beta 3//Blood. Vol. 86. P. 234-242.
  25. Kupferminc M. J. Eldor A., Steinman N. et al., 1999. Increased frequency of genetic thrombophilia in women with complications of pregnancy//N. Engl. J. Med. Vol. 340. N. 1. P. 9-13.
  26. Kupferminc M. J., 2005. Thrombophilia and pregnancy//Curr Pharm Des. Vol. 11. N 6. P. 735-748.
  27. Laasanen J., Hiltunen M., Punnonen K. et al., 2002. Fibrinogen and factor VII promoter polymorphisms in women with preeclampsia//Obstetrics & Gynecology. Vol. 100, N. 2. P. 317-320.
  28. Lane D. A., Grant P. J., 2000. Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease//Blood. Vol. 95. N 5. P. 1517-1532.
  29. Libert F., Cochaux P., Beckman G. et al., 1998. The Δccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe//Human Molecular Genetics. V. 7. N 3. P. 399-406.
  30. Lin J., August P., 2005. Genetic Thrombophilias and Preeclampsia: a meta-analysis//Obstetrics & Gynecology. Vol. 105. P. 182-192.
  31. Limborska S. A., Balanovsky O. P., Balanovskaya E. V. et al., 2002. Analysis of CCR5Δ32 geographic distribution and its correlation with some climatic and geographic factors//Hum Hered. Vol. 53. P. 49-54.
  32. Mello G., Parretti E., Marozio L. et al., 2005. Thrombophilia is significantly associated with severe preeclampsia Results of a large-scale, case-controlled study//Hypertension. Vol. 46. P. 1270-1274.
  33. Miller S. A., Dykes D. D., Polesky H. F., 1988. A simple salting out procedure for extracting DNA from human nucleated cells//Nucleic Acids Research. Vol. 16. N 3. P. 1215.
  34. O'Shaughnessy K. M., Fu B., Ferraro F. et al., 1999. Factor V Leiden and thermolabile methylenetetrahydrofolate reductase gene variants in an East Anglian preeclampsia cohort//Hypertension. Vol. 33. P. 1338-1341.
  35. O'Shaughnessy K. M., Fu B., Downing S. et al., 2001. Thrombophilic polymorphisms in pre-eclampsia: altered frequency of the functional 98C>T polymorphism of glycoprotein IIIa.//J. Med. Genet. Vol. 38. P. 775-777.
  36. Poort S. R., Rosendaal F. R., Reitsma P. H. et al., 1996. A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis//Blood. V. 88. N 10. P. 3698-3703.
  37. Preston F. E., Rosendaal F. R., Walker I. D. et al., 1996. Increased fetal loss in women with heritable thrombophilia//Lancet. Vol. 348. N 9032. P. 913-916.
  38. Ridker P. M., Hennekens C. H., Schmitz C. et al., 1997. PIA1/A2 polymorphism of platelet glycoprotein IIIa and risks of myocardial infarction, stroke, and venous thrombosis//Lancet. N. 349. P. 385-388.
  39. Sibai B. M., 2005. Thrombophilia and severe preeclampsia: time to screen and treat in future pregnancies?//Hypertension. Vol. 46. P. 1252-1253.
  40. Tempelhoff von G.-F., Heilmann L., Spanuth E. et al., 2000. Incidence of the factor V leiden-mutation, coagulation inhibitor deficiency, and elevated antiphospholipid-antibodies in patients with preeclampsia or HELLP-syndrome//Thrombosis Research. Vol. 100. P. 363-365.
  41. Tybjaerg-Hansen A., Agerholm-Larsen B., Humphries S. E. et al., 1997. A сommon mutation (G-455>A) in the β-Fibrinogen promoter is an independent predictor of plasma fibrinogen, but not of ischemic heart disease//J. Clin. Invest. Vol. 99. N 12. P. 3034-3039.
  42. Wiwanitkit V., 2006. Correlation between plasminogen activator inhibitor-1 4G/5G polymorphism and pre-eclampsia: an appraisal//Arch Gynecol Obstet. Vol. 273. P. 322-324.
  43. Yalinkaya A., Erdemoglu M., Akdeniz N. et al., 2006. The relationship between thrombophilic mutations and preeclampsia: a prospective case-control study//AnnSaudi Me. Vol. 26. N 2. P. 105-109.
  44. Yamada N., Arinami T., Yamakawa-Kobayashi K. et al., 2000. The 4G/5G polymorphism of the plasminogen activator inhibitor-1 gene is associated with severe preeclampsia//J. Hum. Genet. Vol. 45. P. 138-141.

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Copyright (c) 2011 Vashukova E.S., Glotov A.S., Kanaeva M.D., Polushkina L.B., Shabanova N.A., Tatarsky P.F., Nosenko E.N., Mertil B., Zhabchenko I.A., Pokhitun M.V., Livshits L.A., Zainulina M.S., Baranov V.S.

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