Online ISSN: 3007-0244,
Print ISSN:  2410-4280
ҮЙРЕНШІКТІ ҮКТІЛІКТІ КӨТЕРМЕУДІҢ ИДИОПАТИЯЛЫҚ ТҮРІНІҢ ГЕНЕТИКАЛЫ ҚАСПЕКТІЛЕРІ. ӘДЕБИЕТКЕ ШОЛУ
Кіріспе. Америкалық репродуктивті медицина қоғамының мәліметі бойынша, жүктіліктің 22-аптасына дейін жүктіліктің 2 және одан да көп жоғалуы ретінде анықталатын жүктілікті көтереалмаушылықтың (бұдан әрі ЖҮК) репродуктивті кезеңіндегі болатын ерлі-зайыптылардың 3% дейін кездесетін гетерогенді бұзылулар болып табылады. ЖҮК ықтимал себептерінің көптеген ғылыми зерттеулеріне қарамастан, олардың этиологиясы шамамен 50% жағдайда белгісіз болып қалады және этиологиясы түсіндірілмеген идиопатиялық ЖҮК (бұдан әрі иЖҮК) деп есептеледі. Дағдылы жүктілікті көтермеудің өзектілігі, клиникалық және генетикалық гетерогенділігі, диагностиканың бірыңғай өлшемдерінің болмауы, этиологиялық факторлардың әртүрлілігі генетикалық зерттеулер үшін қолайлы нысан ретінде иЖҮК-ны таңдауға себепші болды. Мақсаты. иЖҮК дамуының маңызды генетикалық нұсқаларын анықтау бойынша әдебиетке шолу жүргізу. Зерттеу әдістері. Әдебиеттерді іздеу: Medline, Web of Science, PubMed, CochraneLibrary Google академиясы, elibrary.ru. іздеу тереңдігі шектелмеген. Басылымдарды әдебиетті шолуға қосу критерийлері анықталды-бұл толық мәтіні бар, орыс және ағылшын тілдеріндегі, статистикалық түрде тексерілген қорытындылары бар жариялымдар. Шығару критерийлері: абстракт, газет мақалалары. Зерттеу және талдау үшін 56 әдеби көз таңдалды. Нәтижелер: Белгілі клиникалық, экологиялық және сыртқы ортадағы қауіп факторларын болдырмау арқылы иЖҮК генетикалық мультифакторлық этиологиясы дәлелдемелерінің саны өсуде. Ұсынылған шолуда имплантация процестерінің физиологиясын заманауи түсінуге негізделген осы генетикалық полиморфизмдерді таңдау құқығы туралы мәселе талқыланады, ол плацента арқылы жанама ана мен ұрық арасындағы теңдестірілген өзара іс-қимылдың ұзақ және күрделі процесін білдіреді. Бұл үдерістің бұзылуы барлық кезеңдерде жүктіліктің үзілуіне алып келуі мүмкін, бұл біздің децидуализация мен эндометрияның ангиогенезіне, апоптозға, сондай-ақ қабынуға жауапты аналық геномның нақты полиморфизмдерін таңдауымызға себеп болды. Қорытынды: иЖҮК-ның жоғары жиілігіне, оның репродукция мен туу көрсеткіштеріне елеулі үлес қосуына байланысты осы ауруды уақтылы диагностикалау мен емдеу үшін иЖҮК-ның болжамды клиникалық биомаркерлерін іздестіруді жүргізу қажет.

Гульнара C. Святова1, http://orcid.org/0000-0001-5092-3143,

Галина М. Березина1, http://orcid.org/0000-0002-5442-4461,

Дамиля Н. Салимбаева1, http://orcid.org/0000-0002-7933-3654,

Меруерт С. Кирикбаева1, http://orcid.org/0000-0003-4265-7548,

Александра В. Муртазалиева1, http://orcid.org/0000-0001-9156-5944,

Корлан З. Садуакасова2, http://orcid.org/0000-0002-4758-6948

 

1 "Акушерлік, гинекология және перинатология ғылыми орталығы" Акционерлік қоғам,

2 С. Ж. Асфендияров атындағы Қазақ ұлттық медицина университеті,

Алматы қ., Қазақстан Республикасы.

1. Аимбетова А.Р. Прогнозирование и профилактика неразвивающейся беременности 1 триместра: дис. … д-ра мед. наук. Алматы, 2010. 228 с. 2. Алиев М.А., Алиев М.А., Баймаханов Б.Б., Святова Г.С., и др. Тромбоэмболия легочной артерии (этиопатогенез, диагностика, лечение и профилактика) / Роль генетических нарушений в возникновении венозных тромбозов и тромбоэмболий легочной артерии, Алматы, 2007. Глава 3.13. С. 100-113. 3. Беспалова О.Н. Генетика невынашивания беременности. // Журнал акушерства и женских болезней. 2007. Том LVI. Выпуск 1. С. 81-92. 4. Киселева А.Н., Бутина Е.В., Зайцева Г.А. Ассоциация полиморфизма генов F2, F5, F7, F13, FGB, ITGA2, ITGB3, PAI-1, MTHFR, MTR, MTRR с нарушениями репродуктивной функции у женщин. // Вятский медицинский вестник. 2017. № 2. С. 54-59. 5. Любчич Н.И., Бобоев К.Т. Изучение роли полиморфизма генов свёртывающей системы в возникновении преждевременных родов у женщин узбекской популяции. // Медицинская генетика. 2015. Глава 14(5). С. 37-41. 6. Макацария А.Д., Бицадзе В.О., Хизроева Д.Х., Немировский В.Б. Тромбопрофилактика у беременных с тромбофилией и тромбозами в анамнезе // Бюллетень СО РАМН. 2013. Том 33(6). С. 99-109. 7. Мамаев А.Н. Клиническая апробация новых способов диагностики нарушений гемостаза, обусловленных патологией в системе физиологических антикоагулянтов: дис. … д-ра. мед. наук. Барнаул, 2006. 246 с. 8. Материалы 64-го Ежегодного конгресса Американского Общества Репродуктивной Медицины (ASRM) // Акушерство, гинекология, репродукция. Оржин. 2009. Том 5. 124 с. 9. Машкина Е.В., Коваленко К.А., Гутникова Л.В., Деревянчук Е.Г., Шкурат Т.П. Ассоциация полиморфных вариантов генов фолатного цикла и интегринов с невынашиванием беременности // Медицинская Генетика. 2013. Том 12. Том 1. С. 40-45. 10. Миербеков Е.М., Святова Г.С., Еспенбетов Е., Березина Г.М. Генетический вклад полиморфизмов генов в развитие тромботических осложнений у хирургических больных // Сборник материалов Том XVIII Международной научной конференции «Здоровье семьи-XXI век». 2014. С. 101-103. (ISBN 978-5-4367-0118-9, UDC 61). 11. Мозговая Е.В., Малышева О.В., Иващенко Т.Э. Эндотелиальная функция при гестозе. Патогенез, генетическая предрасположенность, диагностика и профилактика. // Методические рекомендации. 2003. 32 с. 12. Петрищева Н.Н. Дисфункция эндотелия. Причины, механизмы, фармакологическая коррекция. Изд-во СПб ГМУ, 2003. 184 с. 13. Третьякова Т.Б., Демченко Н.С., Рукосуев Н.Е. Полиморфизм генов фолатного цикла у женщин Уральского региона в норме и с привычным невынашиванием беременности. // Медицинская генетика. 2017. Том 16(5). С. 42-47. 14. Чуманова О.В., Пасман М.Н., Воронина Е.Н., Филипенко М.Л. Оценка роли полиморфизма генов системы гемостаза и генов, отвечающих за формирование дисфункции эндотелия, в развитии гестационных осложнений // Медицинская генетика. 2017. Том 5. С. 48-51. 15. [Электронный ресурс] National Human Genome Research Institute (NHGRI Catalog GWAS) www.genome.gov. (14.05.2019). 16. Amela Jusic, Devleta Balić, Aldijana Avdić, Maja Pođanin, Adem Balić He association of factor V G1961A (factor V Leiden), prothrombin G20210A, MTHFR C677T and PAI-1 4G/5G polymorphisms with recurrent pregnancy loss in Bosnian women // Medicinski Glasnik. 2018. Volume 15. Number 2. doi: 10.17392/948-18 17. Arias-Sosa L.A., Acosta I.D., Lucena-Quevedo E., Moreno-Ortiz H., Esteban-Pérez C., Forero-Castro M. Genetic and epigenetic variations associated with idiopathic recurrent pregnancy loss. // Journal Assisted Reproduction and Genetics. 2018. Vol. 35. N 3. P. 355-366. 18. Barlik M. Seremak-Mrozikiewicz A., Kraśnik W., Drews K. The 20210G>A and 19911A>G polymorphisms of prothrombin gene and recurrent miscarriages. // Ginekologia Polska Journal. 2013. Vol. 84(10). P. 830-834. 19. Barlik, M., Seremak-Mrozikiewicz A., Drews K. Correlation between factor VII and PAI-1 genetic variants and recurrent miscarriage. // Ginekologia Polska Journal. 2016. Vol. 87(7). P. 504-509. doi: 10.5603/GP.2016.0034. 20. Benze G., Heinrich J., Schulte H. Association of the GPIa C807T and GPIIIa PlA1/A2 polymorphisms with premature myocardial infarction in men // European Heart Journal. 2002. Vol. 23(4). P. 325-30. 21. Bigdeli R., Younesi M. R., Panahnejad E., Asgary V., Heidarzadeh S., Mazaheri H., Aligoudarzi S.L. Association between thrombophilia gene polymorphisms and recurrent pregnancy loss risk in the Iranian population. // Systems Biology Reproductive Medicine. 2018. Vol.64. N 4. P. 274-282. doi: 10.1080/19396368.2018.1456576. 22. Branch D.W., Gibson M., Silver R.M. Clinical practice. Recurrent miscarriage. // The New England Journal of Medicine. 2010. Vol. 363. P. 1740–1747. 23. Buchholz T., Lohse P., Rogenhofer N. Polymorphisms in the ACE and PAI-1 genes are associated with recurrent spontaneous miscarriages. // Human Reproduction. 2003. Vol. 18. P. 2473–2477. 24. Chen Y., Wu F., Li J. Angiotensin-converting enzyme insertion/deletion (I/D) polymorphisms and recurrent pregnancy loss: a meta-analysis. // Journal of Assisted Reproduction and Genetics. 2012. Vol. 29. P. 1167–1173. 25. Choi Y., Kim J. O., Shim S. H., Lee Y., Kim J H. Genetic Variation of Methylenetetrahydrofolate Reductase (MTHFR) and Thymidylate Synthase (TS) Genes Is Associated with Idiopathic Recurrent Implantation Failure. // PLOS One. 2016. Vol. 11. N 8. doi:10.1371/ journal.pone.0160884. 26. Christiansen O.B., Mathiesen O., Lauritsen J.G. Idiopathic recurrent spontaneous abortion. / Evidence of a familial predisposition. // Acta Obstetricia et Gynecologica Scandinavica. 1990. Vol. 69. P. 597–601. 27. Clifford K., Rai R., Watson H., Regan L. An informative protocol for the investigation of recurrent miscarriage: preliminary experience of 500 consecutive cases // Human Reproduction. 1994. Vol. 9. P. 1328–1332. 28. Daher S., Mattar R., Gueuvoghlanian-Silva B.Y. Genetic polymorphisms and recurrent spontaneous abortions: an overview of current knowledge // American Journal of Reproductive Immunology. 2012. Vol. 67. Р.341-347. 29. Đorđević V., Gvozdenov M., Pruner I., Kovač M., Tomić B.1., Stanković M. The prevalence of pai-1 4g/5g polymorphism in women with fetal loss – first data for a serbian population // Journal Medical of Biochemistry. 2014. Vol. 33. N. 2. P.203-207. DOI: 10.2478/jomb-2013-0040 30. Dudding T.E., Attia J. The association between adverse pregnancy outcomes and maternal factor V Leiden genotype: a meta-analysis // Thrombosis and Haemostasis. 2004. Vol. 91. P. 700-711. 31. Eichler E.E., Flint J., Gibson G., Kong A. Missing heritability and strategies for finding the underlying causes of complex disease // Nature Reviews Genetics. 2010. Vol.11. N.6. P. 446-450. 32. Gu S.L., Joon C.P., Jeong H.R. Etiologic characteristics and index pregnancy outcomes of recurrent pregnancy losses in Korean women // Obstetrics and Gynecology Science. 2016. Vol. 59. P. 379-387. 33. Goncharova I., Babushkina O., Minaycheva L., Markova V., Kulisha E., Salakhovb R., Makeeva O., Puzyreva V. Prevalence of Alleles of Polymorphic Variants Leu33Pro and Leu66Arg Gene ITGB3 among Inhabitants of Siberia // Russian Journal of Genetics. 2013. Vol. 49. P. 877-880. 34. Goodman C.S., Coulam C.B., Jeyendran R.S., Acosta V.A., Roumen R. Which thrombophilic gene mutations are risk factors for recurrent pregnancy loss? // American Journal of Reproductive Immunology. 2006. Vol. 56. P. 230–236. 35. Heidari M.M., Sheikholeslami M., Yavari M., Khatami M., Seyedhassani S.M. The association of renin-angiotensinogen system genes polymorphisms and idiopathic recurrent pregnancy loss // Human Fertility (Cambridge). 2017. Vol. 23. P. 1-7. doi: 10.1080/14647273.2017.1388545. 36. Hekmatdoost A., Vahid F., Yari Z. Sadeghi M., Eini-Zinab H. Methyltetrahydrofolate vs Folic Acid Supplementation in Idiopathic Recurrent Miscarriage with Respect to Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms: A Randomized Controlled Trial. // PLOS One. 2015. Vol. 10. N 12: e0143569. doi: 10.1371/journal.pone.0143569 37. Hirschhorn J.N., Gajdos Z.K. Genome-wide association studies: results from the first few years and potential implications for clinical medicine. // Annual review of medicine. 2011. Vol.62. N1. Р. 11–24. 38. Holly B., Danny J. Schust Recurrent Pregnancy Loss: Etiology, Diagnosis, and Therapy. // Reviews in obstetrics and gynecology. 2009. Vol. 2. N 2. P. 76-83. 39. Hubert Wolski, Magdalena Barlik, Krzysztof Drews, Andrzej Klejewski, Grażyna Kurzawińska et.al. Contribution of inherited thrombophilia to recurrent miscarriage in the Polish population // Ginekologia Polska Journal. 2017. Vol.88. N7. P. 385-392. DOI: 10.5603/GP. a2017.0072 Pubmed: 28819944 40. Jeddi-Tehrani M., Torabi R., Zarnani A. H., Analysis of plasminogen activator inhibitor-1, integrin beta3, beta fibrinogen, and methylenetetrahydrofolate reductase poly morphisms in Iranian women with recurrent pregnancy loss. // American Journal of Reproductive Immunology. 2011. Vol. 66. P. 149–56. 41. Jivraj S., Anstie B., Cheong Y.C. Obstetric and neonatal outcome in women with a history of recurrent miscarriage: a cohort study // Human Reproduction. 2001. Vol. 16. P. 102–106. 42. Kamali M., Hantoushzadeh S., Borna S. Association between Thrombophilic Genes Polymorphisms and Recurrent Pregnancy Loss Susceptibility in the Iranian Population: a Systematic Review and Meta-Analysis // Iranian Biomedical Journal. 2018. Vol. 22.N.2. P. 78-89. 43. Kashif S., Kashif M.A., Saeed A. The association of factor V leiden mutation with recurrent pregnancy loss // Journal Of Pakistan Medical Association. 2015. Vol.65. N11. P. 1169-1172. PMID: 26564286 44. Kovacheva K., Ivanov P., Konova E. Genetic thrombophilic defects (Factor V Leiden, prothrombin G20210A, MTHFR C677T) in women with recurrent fetal loss // Akush Ginekol (Sofiia). 2007. Vol. 46(7). P. 10-16. 45. Kovalevsky G., Gracia C.R., Berlin J. Evaluation of the association between hereditary thrombophilias and recurrent pregnancy loss: a meta-analysis // Arch. Intern. Med. 2004. Vol. 164. P. 558-563. 46. Kutteh W.H., Triplett D.A. Thrombophilias and recurrent pregnancy loss // Seminar in Reproductive Medicine. 2006. Vol. 24. N1. P. 54-66. 47. Lambrinoudaki I., Armeni E., Kaparos G.J., Christodoulakos G.E., Sergentanis T.N., Alexandrou A., Creatsa M., Kouskouni E. The frequency of early, spontaneous miscarriage associated with the leu33pro polymorphism of Glycoprotein IIIa: a pilot study // Australian and New Zealand Journal of Obstetrics and Gynaecology. 2010. Vol. 50. N5. P. 485-90. 48. Leander R., Wiman B., Hallqvist J., Falk G., De Faire U. The G-455A polymorphism of the fibrinogen Bb-gene relates to plasma fibrinogen in male cases, but does not interact with environmental factors in causing myocardial infarction in either men or women // Journal of Internal Medicine. 2002. Vol. 252. P. 332-341 49. Lee H.H., Hong S.H., Shin S.J., Ko J.J., Oh D., Kim N.K. Association study of vascular endothelial growth factor polymorphisms with the risk of recurrent spontaneous abortion // Fertility and Sterility. 2010. Vol.93. P. 1244–1247. 50. López-Jiménez J.J., Porras-Dorantes Á., Juárez-Vázquez C.I., García-Ortiz J.E., Fuentes-Chávez C.A., Lara-Navarro I.J., Jaloma-Cruz A.R. Molecular thrombophilic profile in Mexican patients with idiopathic recurrent pregnancy loss // Genetics and Molecular Research. 2016. Vol. 15. N 4. doi: 10.4238/gmr.15048728. 51. Luo L., Li D. H., Wei S. G., Zhang H. B., Li S. B., Zhao J. Polymorphisms in the endothelial nitric oxide synthase gene associated with recurrent miscarriage // Genetics Molecular Research. 2013. Vol.12. N. 3. P.3879-86. doi: 10.4238/2013.September.23.6. 52. Magdoud K., Granados Herbepin V., Messaoudi S., Hizem S., Bouafia N., Almawi W. Y., Mahjoub1 T., Touraine R. Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss // Molecular Human Reproduction. 2013. Vol.19. No.7. P. 438–443. 53. Manal G., Al-Astal, Fadel A. Beta-fibrinogen (-455 G/A) and Integrin beta-3 (PLA1/A2) polymorphisms and recurrent pregnancy loss in Gaza strip-Palestine // International Journal of Reproduction, Contraception, Obstetrics and Gynecology. 2014. Vol. 3. N.1. P. 134-138. 54. Manning A.K. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance // Nature genetics. 2012. Vol. 44. P. 659–669. 55. Maristella D’Uva, Pierpaolo Di Micco, Ida Strina, Antonio Ranieri, Carlo Alviggi Etiology of hypercoagulable state in women with recurrent fetal loss without other causes of miscarriage from Southern Italy: new clinical target for antithrombotic therapy // Biologics. 2008. Vol. 2. N. 4. P. 897–902. PMCID: PMC2727898 PMID: 19707467 56. Maziri P., Asaadi Tehrani G., Mirzaahmadi S. Relationship between GPIa (807C/T) and GPIIIa (PLA1/PLA2) gene plymorphisms and recurrent spontaneous abortion in women in Tehran Province // Scientific Journal of Iran Blood Transfus Organ. 2016. Vol. 13. N. 2. P. 138-145. 57. McCarthy M.I., Hirschhorn J.N. Genome-wide association studies: past, present and future // Human molecular genetics. 2008. Р. 100–101. 58. Mc Namee K., Dawood F., Farquharson R.G. Thrombophilia and early pregnancy loss. // Practice Research Clinical Obstetrics and Gynaecology. 2012. Vol. 26. P. 91–102. 59. Mei-Tsz Su, Sheng-Hsiang Lin, Yi-Chi Chen Genetic association studies of ACE and PAI-1 genes in women with recurrent pregnancy loss. A systematic review and meta-analysis // Thrombosis and Haemostasis. 2013. P. 109. 60. Mohammad Mehdi Heidari, Mozhgan Sheikholeslami, Mahdieh Yavari, Mehri Khatami, Seyed Mohammad Seyedhassani The association of renin–angiotensinogen system genes polymorphisms and idiopathic recurrent pregnancy loss // Human Fertility. 2019. Vol. 22. Issue 3. P. 164-170. https://doi.org/10.1080/14647273.2017.1388545 61. Mtiraoui N., Zammiti W., Ghazouani L. Methylenetetrahydrofolate reductase C677T and A1298C polymorphism and changes in homocysteine concentrations in women with idiopathic recurrent pregnancy losses // Reproduction. 2006 Vol.131. N.2. P. 395-401. PMID:16452733. DOI:10.1530/rep.1.00815 62. Myerbekov Y.M., Svyatova G.S., Espenbetov E.B., Berezina G.M. The genetic factors of venous thrombosis predisposing in Kazakh population // 2 International conference “Personalized medicine and global health”. 2015. P. 32-33. 63. Ocak Z., Özlü T., Ozyurt O. Association of recurrent pregnancy loss with chromosomal abnormalities and hereditary thrombophilias // African Health Sciences. 2013. Vol 13. Issue 2. P. 447-452. 64. Ogasawara M., Aoki K., Okada S. Embryonic karyotype of abortuses in relation to the number of previous miscarriages // Fertility Sterility. 2000. Vol. 73. P. 300–304. 65. Ozdemir O., Yenicesu G. I., Silan F., Köksal B., Atik S., Ozen F., Göl M., Cetin A. Recurrent pregnancy loss and its relation to combined parental thrombophilic gene mutations // Genetic Testing and Molecular Biomarkers. 2012. Vol. 16. P. 279-286. 66. Parisa Maziri, Golnaz Asaadi Tehrani, Fereshteh Bahrami Hidagi, Masoumeh, Sedigheh Asadi Association between Thrombophilic Gene Polymorphisms and Recurrent Pregnancy Loss in Iranian Women // Iranian Journal of Neonatology. 2017. Vol. 8. N. 4. P. 13-19. 67. Parveen F., Faridi R.M., Alam S., Agrawal S. Genetic analysis of eNOS gene polymorphisms in association with recurrent miscarriage among North Indian women // Reproductive Bio Medicine Online. 2011. Vol. 23. P. 124– 131. 68. Pereza N. Systematic review and meta-analysis of genetic association studies in idiopathic recurrent spontaneous abortion // Fertility and Sterility. 2017. Vol. 107. N. 1. P. 150-159. 69. Pihusch R. Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the firth trimester // American Journal of Reproductive Immunology. 2001. Vol. 46. P. 124-131. 70. Practice Committee of the American Society for Reproductive Medicine. Definitions of infertility and recurrent pregnancy loss: a committee opinion // Fertility and Sterility. 2013. Vol. 99. No. 1. P. 63 http://dx.doi.org/10.1016/j.fertnstert. 71. Preston F.E., Rosendaal F.R., Walker I.D Increased fetal loss in women with heritable thrombophilia // The Lancet. 1996. Vol. 348. P. 913–6. 72. Rai R. Recurrent miscarriage // The Lancet. 2006. Vol. 368. P. 601–611. 73. Rodger M.A., Betancourt M.T. The association of factor V Leiden and prothrombin gene mutation and placenta-mediated pregnancy complications: a systematic review and meta-analysis of prospective cohort studies // PLOS Med. 2010. Vol. 7. N.6. e1000292. doi: 10.1371/journal.pmed.1000292. 74. Rull K., Nagirnaja L., Laan M. Genetics of recurrent miscarriage: challenges, current knowledge, future directions // Frontiers in Genetics. 2012. Vol. 3. P. 34. 75. Salafia C.M., Minior V.K., Pezzullo J.C. Intrauterine growth restriction in infants of less than thirty-two weeks’ gestation: associated placental pathologic features // American Journal of Obstetrics and Gynecology. 1995. Vol. 173. P. 1049–1057. 76. Samama M.M., Dahl O.E., Quinlan D.J. Quantification of risk factors for venous thromboembolism: a preliminary study for the development of a risk assessment tool // Haematologica. 2003. Vol. 88. P. 1410-1421. 77. Sarah A B., Catherine N. Pregnancy loss and thrombophilia: the elusive link // British Journal of Haematology. 2012. Vol. 157 (5). P. 529-42. 78. Sarig G., Johnny S.Y., Hoffman R. Thrombophilia is common in women with idiopathic pregnancy loss and is associated with late pregnancy wastage // Fertility and Sterility. 2002. Vol. 77. P. 342-347. 79. 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 // Archives Gynecology and Obstetrics. 2015. Vol.1. N. 3. P. 671-679. doi: 10.1007/s00404-014-3443-x. 80. Seyhon I., Mohammadi P., Kaki A., Mazdapour M. Evaluation of endothelial nitric oxide synthase gene G894T polymorphism in Iranian women with recurrent spontaneous abortions // Indian Journal of Fundamental and Applied Life Sciences. 2014. Vol. 4 (S3). P. 1194-1198. 81. Shi X. Xie Y. Jia Maternal genetic polymorphismsand unexplained recurrent miscarriage:a systematic review and meta-analysis // ClinGen. 2017. Vol. 91. P. 265–284. 82. Silver R.M., Zhao Y., Spong C.Y. Prothrombin gene G20210A mutation and obstetric complications // Obstetrics and Gynecology. 2010. Vol. 115. P. 14-20. 83. Simonidesova M., Simko J., Holoman K. Defects of genes encoding inhibitors of coagulation and their application in early miscarriageaetiology // Bratislava Lek Listy. 2014. Vol. 115.N. 11. P. 730-735. 84. Stirrat G.M. Recurrent miscarriage // The Lancet. 1990. Vol. 336. P. 673–675. 85. Sugiura-Ogasawara, Kawashima Y. Al The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome // Research Gate. 2017. Vol.62.N.9. P. 831-838. DOI: 10.1038/jhg. 86. Sun L., Lv H., Wei W. Angiotensin-converting enzyme D/I and plasminogen activator inhibitor-1 4G/5G gene polymorphisms are associated with increased risk of spontaneous abortions in polycystic ovarian syndrome // Journal Endocrinological Investigation. 2010. Vol. 33. P. 77–82. 87. Su M.T., Lin S.H., Chen Y.C. Genetic association studies of angiogenesis- and vasoconstriction-related genes in women with recurrent pregnancy loss: a systematic review and meta-analysis // Human Reproduction Update. 2011. Vol. 17. P. 803–812. 88. Srinivas R., Apurva S., Srilekha A. Deepika G2 and Deepika MLN2* the insertion/deletion (I/D) polymorphism in the angiotensinconverting enzyme gene and recurrent pregnancy loss // International Journal of Recent Scientific Research 2018. Vol. 9. P. 26769-26772. 89. Svyatova G., Berezina G., Aimbetova A., Salimbaeva D. Genetic basis of recurrent miscarriage in Kazakh population // European Journal of Human Genetics.2013. Vol. 21, Suppl.2. J19.82. 90. Ticconi C., Mancinelli F., Gravina P., Federici G., Piccione E., Bernardini S. Beta-fibrinogen G-455A polymorphisms and recurrent miscarriage // Gyecologic and Obstetric Investigation. 2011. Vol. 71 (3). P. 198-201. 91. Torabi R., Zarei S., Zeraati H., Zarnani A., Akhondi M., Hadavi R., Shiraz E., Jeddi-Tehrani M. Combination of Thrombophilic Gene Polymorphisms as a Cause of Increased the Risk of Recurrent Pregnancy Loss // Journal of Reproduction and Infertility. 2012. Vol. 13. P. 89-94. 92. Toth B., Vocke F., Rogenhofer N. Paternal thrombophilic gene mutations are not associated with recurrent miscarriage // American Journal Reproductive Immunology. 2008. Vol. 60. P. 325-332. 93. Van Goor M.P., Mez-Garcı E.B.G., Leebeek F.W.G., Brouwers G.J., Koudstaal P.J., Dippel D. The 2148 C/T fibrinogen gene polymorphism and fibrinogen levels in ischaemic stroke: a case–control study // Journal of Neurology, Neurosurgery, and Psychiatry. 2005. Vol. 76. P. 121-123. 94. Van't Hooft F.M. Two Common, Functional Polymorphisms in the Promoter Region of the β-Fibrinogen Gene Contribute to Regulation of Plasma Fibrinogen Concentration // Arteriosclerosis, Thrombosis, and Vascular Biology. 1999. Vol. 19. P. 3063-3070. 95. Visscher P.M., Brown M.A., McCarthy M.I. Five years of GWAS discovery // American Journal of Human Genetics. 2012. Vol. 90. Р. 7–24. 96. Vlachadis N., Tsamadias V., Vrachnis N., Georgios Kaparo, Vitoratos N., Kouskouni E. Genetic heterogeneity of platelet glycoproteins Ia and IIIa and the risk of spontaneous miscarriages // Journal of Maternal-Fetal and Neonatal Medicine. 2017. Vol. 30. N.11. P. 1309-1313. 97. Wolf C.E., Haubelt H., Pauer H.U. Recurrent pregnancy loss and its relation to FV Leiden, FII G20210A and polymorphisms of plasminogen activator and plasminogen activator inhibitor // Pathophysiology of Haemostasis and Thrombosis. 2003. Vol. 33. P. 134–137. 98. Wolski H., Barlik H, Drews K. Contribution of inherited thrombophilia to recurrent miscarriage in the Polish population // Ginekology Polsky Journal. 2017. Vol. 88(7). P. 385-392. doi: 10.5603/GP.a2017.0072. 99. Wolski H., Kurzawinska G., Drews K., Barlik M., Kadziolka P., Malewski Z., Mikolajska-Ptas P., Bylewski M., Seremak-Mrozikiewicz A. MTHFR genetic polymorphism and the risk of intrauterine fetal death in Polish women // Ginekology Polska. 2019. Vol.90. N. 2. P.76-81. doi: 10.5603/GP.2019.0013. PMID: 30860273 DOI: 10.5603/GP.2019.0013 100. Wypasek E., Stepien E., Kot M., Plicner D., Kapelak B., Sadowski J., Undas A. Fibrinogen Beta-Chain – C148T Polymorphism is Associated with Increased Fibrinogen, C-Reactive Protein, and Interleukin-6 in Patients Undergoing Coronary Artery Bypass Grafting // Inflammation. 2012. Vol. 35. P. 429–435. 101. Zhang H.K., Luo F.W., Geng Q., Li J., Liu Q.Z., Chen W.B. Analysis of fetal chromosomal karyotype and etiology in 252 cases of early spontaneous abortion // Zhonghua Yi Xue Yi. Cbuan Xue Za Zbi. 2011. Vol. 28. P.575-578. 102. Zonouzi A.P., Chaparzadeh N., Ghorbian S. The association between thrombophilic gene mutations and recurrent pregnancy loss // Journal of Assisted Reproduction and Genetics 2013. Vol. 30. P. 1353–1359. References: 1. Aimbetova A.R. Prognozirovanie i profilaktika nerazvivayushcheysya beremennosti 1 trimestra [Prediction and prevention of non-developing pregnancy 1 trimester]: dis. … d-ra med. nauk. Almaty, 2010. 228 p. [in Russian] 2. Aliev M.A., Aliev M.A., Baymakhanov B.B., Svyatova G.S., i dr. Tromboemboliya legochnoy arterii (etiopatogenez, diagnostika, lechenie i profilaktika). Rol' geneticheskikh narusheniy v vozniknovenii venoznykh trombozov i tromboemboliy legochnoy arterii [Pulmonary thromboembolism (etiopathogenesis, diagnosis, treatment and prevention). The role of genetic disorders in the occurrence of venous thrombosis and pulmonary thromboembolism], Almaty, 2007. Glava 3.13. pp. 100-113. [in Russian] 3. Bespalova O.N. Genetika nevynashivaniya beremennosti. [Genetics of miscarriage]. Zhurnal akusherstva i zhenskikh bolezney [Journal of Obstetrics and Women's Diseases] 2007. Tom LVI. Vypusk 1. p. 81. [in Russian] 4. Kiseleva A.N., Butina E.V., Zaytseva G.A. Assotsiatsiya polimorfizma genov F2, F5, F7, F13, FGB, ITGA2, ITGB3, PAI-1, MTHFR, MTR, MTRR s narusheniyami reproduktivnoy funktsii u zhenshchin. [Association of gene polymorphisms F2, F5, F7, F13, FGB, ITGA2, ITGB3, PAI-1, MTHFR, MTR, MTRR with impaired reproductive function in women]. Vyatskiy meditsinskiy vestnik [Vyatka Medical Bulletin] 2017. № 2. S. 54. [in Russian] 5. Lyubchich N.I., Boboev K.T. Izuchenie roli polimorfizma genov svertyvayushchey sistemy v vozniknovenii prezhdevremennykh rodov u zhenshchin uzbekskoy populyatsii. [Study of the role of coagulation system gene polymorphism in the occurrence of preterm birth in women of the Uzbek population.] Meditsinskaya genetika [Medical genetics] 2015. Glava 14(5). pp. 37-41. [in Russian] 6. Makatsariya A.D., Bitsadze V.O., Khizroeva D.Kh., Nemirovskiy V.B. Tromboprofilaktika u beremennykh s trombofiliey i trombozami v anamneze [A history of thromboprophylaxis in pregnant women with thrombophilia and thrombosis]. Byulleten' SO RAMN. 2013. Tom 33(6). pp. 99-109. [in Russian] 7. Mamaev A.N. Klinicheskaya aprobatsiya novykh sposobov diagnostiki narusheniy gemostaza, obuslovlennykh patologiey v sisteme fiziologicheskikh antikoagulyantov [Clinical testing of new methods for the diagnosis of hemostatic disorders due to pathology in the system of physiological anticoagulants]: dis. … d-ra. med. nauk. Barnaul, 2006. 246 s. [in Russian] 8. Materialy 64-go Ezhegodnogo kongressa Amerikanskogo Obshchestva Reproduktivnoy Meditsiny (ASRM) [Materials of the 64th Annual Congress of the American Society for Reproductive Medicine (ASRM)]. Akusherstvo, ginekologiya, reproduktsiya. Orzhin. [Obstetrics, gynecology, reproduction. Orzhin.] 2009. Tom 5 pp. 124. [in Russian] 9. Mashkina E.V., Kovalenko K.A., Gutnikova L.V., Derevyanchuk E.G., Shkurat T.P. Assotsiatsiya polimorfnykh variantov genov folatnogo tsikla i integrinov s nevynashivaniem beremennosti. [Association of polymorphic variants of folate cycle genes and integrins with miscarriage]. Meditsinskaya Genetika [Medical Genetics]. 2013. Tom 12. Tom 1. pp. 40-45. [in Russian] 10. Mierbekov E.M., Svyatova G.S., Espenbetov E., Berezina G.M. Geneticheskiy vklad polimorfizmov genov v razvitie tromboticheskikh oslozhneniy u khirurgicheskikh bol'nykh [The genetic contribution of gene polymorphisms to the development of thrombotic complications in surgical patients]. Sbornik materialov Tom XVIII Mezhdunarodnoy nauchnoy konferentsii «Zdorov'e sem'i-XXI vek» [Collection of materials Volume XVIII International Scientific Conference "Family Health-XXI Century"]. 2014. pp. 101-103. (ISBN 978-5-4367-0118-9, UDC 61). [in Russian] 11. Mozgovaya E.V., Malysheva O.V., Ivashchenko T.E. Endotelial'naya funktsiya pri gestoze. Patogenez, geneticheskaya predraspolozhennost', diagnostika i profilaktika. [Endothelial function in gestosis. Pathogenesis, genetic predisposition, diagnosis and prevention]. Metodicheskie rekomendatsii [Guidelines] 2003. p. 32. [in Russian] 12. Petrishcheva N.N. Disfunktsiya endoteliya. Prichiny, mekhanizmy, farmakologicheskaya korrektsiya [Endothelial dysfunction. Causes, mechanisms, pharmacological correction] Izd-vo SPb GMU. 2003. p. 184. [in Russian] 13. Tret'yakova T.B., Demchenko N.S., Rukosuev N.E. Polimorfizm genov folatnogo tsikla u zhenshchin Ural'skogo regiona v norme i s privychnym nevynashivaniem beremennosti [Polymorphism of folate cycle genes in women of the Ural region is normal and with habitual miscarriage]. Meditsinskaya genetika [Medical genetics] 2017. Tom 16(5). Pp.42-47. [in Russian] 14. Chumanova O.V., Pasman M.N., Voronina E.N., Filipenko M.L. Otsenka roli polimorfizma genov sistemy gemostaza i genov, otvechayushchikh za formirovanie disfunktsii endoteliya, v razvitii gestatsionnykh oslozhneniy [Evaluation of the role of polymorphism of hemostasis system genes and genes responsible for the formation of endothelial dysfunction in the development of gestational complications]. Meditsinskaya genetika [Medical Genetics] 2017. Tom 5. S. 48-51. [in Russian] 15. [Electronnyy resurs] Natsional'nyy issledovatel'skiy institut genoma cheloveka (katalog NHGRI GWAS) [National Human Genome Research Institute (NHGRI Catalog GWAS)] www.genome.gov. (14.05.2019)
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