Features of the course of the gestational process with the carriage of genotypes F5L:G(1961)A and F2:G(20210)A and inheritance options
https://doi.org/10.21682/2311-1267-2021-8-3-50-58
Abstract
Aim of the study – to establish the features of inheritance of the F5L:G(1961)A and F2:G(20210)A genotypes and to assess their influence on the course and outcomes of pregnancy.
Materials and methods. The object of the study was 70 mother–child pairs: 50 women, carriers of the F5L:G(1961)A mutation, and their children; 20 female patients, carriers of the F2:G(20210)A mutation, their children. Additionally, 18 families of women, carriers of the factor V Leiden mutation, in three generations were studied.
Results. Carriage of the F5:(1961)GA and F2:(20210)GA genotypes in fetuses is associated with the risk of developing gestational complications in their mothers, which are primarily realized when the maternal laboratory phenotype is manifested. A higher frequency of occurrence of the minor allele A20210 of the FII gene was determined in children than in the older generation (p = 0,0006).
About the Authors
M. G. Nikolaeva
Altai State Medical University, Ministry of Health of Russia; Altai Branch of the National Medical Research Center of Hematology, Ministry of Health of Russia
Russian Federation
Russian Federation
Dr. of Sci. (Med.), Professor of the Department of Obstetrics and Gynecology with the course of DPO; Senior Researcher
SPIN-code: 8295-9290
40 Lenin Prosp., Barnaul, 656038
1 Lyapidevsky St., Barnaul, 656024
L. A. Strozenko
Altai State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
Dr. of Sci. (Med.), Professor, Director of the Institute of Pediatrics and Professor of the Department of Propedeutics of Childhood Diseases
SPIN-code: 4116-1023
40 Lenin Prosp., Barnaul, 656038
N. N. Yasafova
Regional Clinical Hospital
Russian Federation
Russian Federation
Hematologist
SPIN-code: 3881-3932
1 Lyapidevsky St., Barnaul, 656024
A. P. Momot
Altai State Medical University, Ministry of Health of Russia; Altai Branch of the National Medical Research Center of Hematology, Ministry of Health of Russia
Russian Federation
Russian Federation
Dr. of Sci. (Med.), Professor, Director
SPIN-code: 8464-9030
40 Lenin Prosp., Barnaul, 656038
1 Lyapidevsky St., Barnaul, 656024
References
1. Nowak-Gottl U., Kurnik K., Krumpel A., Stoll M. Thrombophilia in the young. Haemostaseologie 2008;28(1–2):16–20. doi: 10.1055/s-0037-1616930.
2. Момот А.П. Проблема тромбофилии в клинической практике. Российский журнал детской гематологии и онкологии 2015;1:36–48. doi: 10.17650/2311-1267-2015-1-36-48. [Momot A.P. The problem of thrombophilia in clinical practice. Rossiyskiy zhurnal detskoy gematologii i onkologii = Russian Journal of Pediatric Hematology аnd Oncology 2015;1:36–48. (In Russ.)].
3. Rodger M.A., Walker M.C., Smith G.N., Wells P.S., Ramsay T., Langlois N.J., Carson N., Carrier M., Rennicks White R., Shachkina S., Wen S.W. Is thrombophilia associated with placenta-mediated pregnancy complications? A prospective cohort study. J Thromb Haemost 2014;12(4):469–78. doi: 10.1111/jth.13017.
4. Shi X., Xie X., Jia Y., Li S. Maternal genetic polymorphisms and unexplained recurrent miscarriage: a systematic review and metaanalysis. Clin Genet 2017;91(2):265–84. doi: 10.1111/cge.12910.
5. Kamali M., Hantoushzadeh S., Borna S., Neamatzadeh H., Mazaheri M., Noori-Shadkam M., Haghighi F. Association between Thrombophilic Genes Polymorphisms and Recurrent Pregnancy Loss Susceptibility in the Iranian Population: a Systematic Review and Meta-Analysis. Iran Biomed J 2018;22(2):78–89. doi: 10.22034/ibj.22.2.78.
6. Строзенко Л.А., Гордеев В.В., Лобанов Ю.Ф., Момот А.П., Колесникова М.А., Снигирь О.А. Частота носительства полиморфных вариантов генов факторов свертывания крови у подростков города Барнаула. Сибирское медицинское обозрение 2015;3(93):53–6. doi: 10.20333/25000136-2015-3-53-57. [Strozenko L.A., Gordeev V.V., Lobanov Yu.F., Momot A.P., Kolesnikova M.A., Snigir O.A. Frequency of carriage of polymorphic variants of blood coagulation factor genes in adolescents from the city of Barnaul. Sibirskoye meditsinskoye obozreniye = Siberian Medical Review 2015;3(93):53–6. (In Russ.)].
7. Момот А.П., Николаева М.Г., Сердюк Г.В., Мамаев А.Н., Романов В.В., Кудинова И.Ю., Белозеров Д.Е., Трухина Д.А., Максимова Н.В., Вахлова Ж.И. Оценка состояния системы гемостаза при физиологически протекающей беременности. Алгоритмы обследования в группах риска. Тромбоз, гемостаз и реология 2019;4(80):80–130. doi: 10.25555/THR.2019.4.0903. [Momot A.P., Nikolaeva M.G., Serdyuk G.V., Mamaev A.N., Romanov V.V., Kudinova I.Yu., Belozerov D.E., Trukhina D.A., Maksimova N.V., Vakhlova Zh.I. Assessment of the state of the hemostasis system during physiological pregnancy. Survey algorithms in risk groups. Tromboz, gemostaz i reologiya = Thrombosis, Hemostasis and Rheology 2019;4(80):80–130. (In Russ.)].
8. Строзенко Л.А., Гордеев В.В., Лобанов Ю.Ф., Момот А.П. Распределение полиморфных вариантов генов факторов свертывания крови и генов фолатного метаболизма у подростков Алтайского края. Российский педиатрический журнал 2015;4(18):19–25. doi: 10.20333/25000136-2015-3-53-57. [Strozenko L.A., Gordeev V.V., Lobanov Yu.F., Momot A.P. Distribution of polymorphic variants of genes of blood coagulation factors and genes of folate metabolism in adolescents of the Altai Territory. Rossiyskiy pediatricheskiy zhurnal = Russian Pediatric Journal 2015;4(18):19–25. (In Russ.)].
9. Комарова И.Б., Зыков В.П., Ушакова Л.В. Значимость факторов, ассоциированных с тромбозом, для развития и прогноза артериального ишемического инсульта у детей. Педиатрия. Журнал им. Г. Н. Сперанского 2018;97(4):100–9. doi: 10.24110/0031-403X-2018- 97-4-100-109. [Кomarova I.B., Zykov V.P., Ushakova L.V. The significance of factors associated with thrombosis for the development and prognosis of arterial ischemic stroke in children. Pediatriya. Zhurnal im. G.N. Speranskogo = Pediatria. Journal named after G.N. Speransky 2018;97(4):100–9. (In Russ.)].
10. Николаева М.Г., Момот А.П., Мамаев А.Н., Хорев Н.Г., Пасман Н.М., Вагнер Ю.Н., Зайнулина М.С., Фаткуллин И.Ф., Сиразитдинова М.М., Ясафова Н.Н. Тромботические события при редких формах генетических тромбофилий. Тромбоз, гемостаз и реология 2020;4:87–94. doi: 10.25555/THR.2020.4.0950. [Nikolaeva M.G., Momot A.P., Mamaev A.N., Khorev N.G., Pasman N.M., Wagner Yu.N., Zainulina M.S., Fatkullin I.F., Sirazitdinova M.M., Yasafova N.N. Thrombotic events in rare forms of genetic thrombophilia. Tromboz, gemostaz i reologiya = Thrombosis, Hemostasis and Rheology 2020;4:87–94. (In Russ.)].
11. Жданова Л.В., Патрушев Л.И., Долгих В.В. Полиморфизм генов, ответственных за тромбофилию, и их влияние на развитие тромбозов в детском возрасте. Бюллетень Восточно-Сибирского научного центра СО РАМН 2013;4(92):115–8. [Zhdanova L.V., Patrushev L.I., Dolgikh V.V. Polymorphism of genes responsible for thrombophilia and their influence on the development of thrombosis in childhood. Byulleten’ Vostochno-Sibirskogo nauchnogo tsentra SO RAMN = Bulletin of the East Siberian Scientific Center of the Siberian Branch of the Russian Academy of Medical Sciences 2013;4(92):115–8. (In Russ.)].
12. Malbora B., Özbek N., Avci Z., Verdi H., Alioğlu B., Varan B., Ataç F.B. Role of Thrombophilic Mutations in Childhood Cardiac and Great Vessel Thrombosis. J Pediatr Sciences 2014;6:e218. doi: 10.17334/jps.89654.
13. Строзенко Л.А., Лобанов Ю.Ф., Колесникова М.А., Рычкова О.А., Цывкина Л.П., Момот А.П. Факторы риска у детей с острыми нарушениями мозгового кровообращения по ишемическому типу. Педиатрия. Журнал им. Г.Н. Сперанского 2020;99(2):163–72. doi: 10.24110/0031-403X-2020-99-2-163-172. [Strozenko L.A., Lobanov Yu.F., Kolesnikova М.А., Rychkova О.А., Tsyvkinа L.P., Momot A.P. Risk factors in children with acute cerebrovascular accidents of ischemic type. Pediatriya. Zhurnal im. G.N. Speranskogo = Pediatria. Journal named after G.N. Speransky 2020;99(2):163–72. (In Russ.)].
14. Львова О.А., Гусев В.В., Кузнецов Н.Н., Баранов Д.А., Ворошилина Е.С., Партылова Е.А. Наследственные прокоагулянтные и протромботические нарушения как ведущий этиологический фактор ишемических инсультов у детей раннего возраста. Журнал неврологии и психиатрии. Инсульт 2013;9:13–20. doi: 10.21508/1027-4065-2015-60-1-92-108. [Lvova O.A., Gusev V.V., Kuznetsov N.N., Baranov D.A., Voroshilina E.S., Partylova E.A. Hereditary procoagulant and prothrombotic disorders as a leading etiological factor of ischemic strokes in young children. Zhurnal nevrologii i psikhiatrii. Insul’t = Journal of Neurology and Psychiatry. Stroke 2013;9:13–20. (In Russ.)].
15. Бицадзе В.О., Макацария А.Д., Стрижакова А.Н., Червенака Ф.А. Жизнеугрожающие состояния в акушерстве и перинатологии. М.: «Медицинское информационное агентство», 2019. 672 с. [Bitsadze V.O., Makatsaria A.D., Strizhakova A.N., Chervenaka F.A. Life-threatening conditions in obstetrics and perinatology. M.: “Medical Information Agency”, 2019. 672 p. (In Russ.)].
16. Momot A.P., Semenova N.A., Belozerov D.E., Trukhina D.A., Kudinova I.Yu. The dynamics of the hemostatic parameters in physiological pregnancy and after delivery. J Hematol Blood Transfus Disord 2016;3(1):1–18. doi: 10.24966/HBTD-2999/100005.
17. Николаева М.Г., Момот А.П., Сердюк Г.В., Елыкомов В.А., Момот К.А., Ясафова Н.Н. АПС-резистентность, связанная с мутацией гена фактора V Лейден (генотип GA): клиническая реализация при беременности. Тромбоз, гемостаз и реология 2018;1(73):47–54. doi: 10.25555/THR.2018.1.0823. [Nikolaeva M.G., Momot A.P., Serdyuk G.V., Elykomov V.A., Momot K.A., Yasafova N.N. APC resistance associated with factor V Leiden gene mutation (GA genotype): clinical implementation in pregnancy. Tromboz, gemostaz i reologiya = Thrombosis, Hemostasis and Rheology 2018;1(73):47–54. (In Russ.)].
18. Nikolaeva M.G., Momot A.P., Zainulina M.S., Yasafova N.N., Taranenko I.A. Pregnancy complications in G20210A mutation carriers associated with high prothrombin activity. Thrombosis J 2021;19:41. doi: 10.1186/s12959-021-00289-4.
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For citations:
Nikolaeva M.G., Strozenko L.A., Yasafova N.N., Momot A.P. Features of the course of the gestational process with the carriage of genotypes F5L:G(1961)A and F2:G(20210)A and inheritance options. Russian Journal of Pediatric Hematology and Oncology. 2021;8(3):50-58. (In Russ.) https://doi.org/10.21682/2311-1267-2021-8-3-50-58
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