Risk for folate-dependent congenital malformations upon preconception exposure to medicines: the impact of ABCB1 gene polymorphism

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详细

The results of numerous studies demonstrate the heterogeneity of the causes of congenital malformations (CMs) (genetic, chromosomal, teratogenic, etc.), although the nature of CMs remains unknown and is multifactorial in a significant proportion (65-70%) of cases. At least 2-3% of all CMs are known to be associated with the use of drugs. The paper gives the results of the authors’ own study evaluating the impact of ABCB1 gene polymorphism on the risk of CMs in the Russian population of pregnant women.

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作者简介

T. Pikuza

I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia

Email: rtchilova@gmail.com

R. Chilova

I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia

Email: rtchilova@gmail.com

E. Sokova

I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia; Research Center for Examination of Medical Products, Ministry of Health of Russia

Email: rtchilova@gmail.com

кандидат медицинских наук, доцент

R. Kazakov

Research Center for Examination of Medical Products, Ministry of Health of Russia

Email: rtchilova@gmail.com

кандидат биологических наук

E. Zhukova

I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia

Email: rtchilova@gmail.com

кандидат медицинских наук

N. Trifonova

I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia

Email: rtchilova@gmail.com

кандидат медицинских наук

E. Shikh

I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia

Email: rtchilova@gmail.com

доктор медицинских наук, профессор

S. Mazur

OOO “Fertimed”

编辑信件的主要联系方式.
Email: rtchilova@gmail.com

参考

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  2. Зюзикова З.С., Волеводз Н.Н., Шестакова М.В. и др. Анализ структуры и частоты врожденных пороков развития у детей, рожденных с помощью вспомогательных репродуктивных технологий. Вопросы гинекологии, акушерства и перинатологии. 2019; 18 (6): 85-91. doi: 10.20953/1726-1678-2019-6-85-91
  3. Громова О.А., Андреева Е.Н., Торшин И.Ю. и др. Системно-биологический анализ ролей марганца в акушерстве и гинекологии: репродуктивное здоровье женщины, регуляция менструального цикла и профилактика пороков развития плода. Вопросы гинекологии, акушерства и перинатологии. 2020; 19 (1): 103-13. doi: 10.20953/1726-1678-20201-103-113
  4. Wang C., Li H., Luo C. et al. The effect of maternal obesity on the expression and functionality of placental P-glycoprotein: Implications in the individualized transplacental digoxin treatment for fetal heart failure. Placenta. 2015; 36 (10): 1138-47. DOI: 10.1016/j. placenta.2015.08.007
  5. Toufaily M.H., Westgate M.N., Lin A.E. et al. Causes of Congenital Malformations. Birth Defects Res. 2018; 110 (2): 87-91. doi: 10.1002/bdr2.1105
  6. Frigerio B., Bizzoni C., Jansen G. et al. Folate receptors and transporters: biological role and diagnostic/therapeutic targets in cancer and other diseases. J Exp Clin Cancer Res. 2019; 38 (1): 125. doi: 10.1186/s13046-019-1123-1

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2. Fig. 1. Comparing the allele frequencies of С3435Т polymorphism of the ABCB1 gene in the examined groups

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3. Fig. 2. Comparing of the genotype frequencies the C3435T polymorphism of the ABCB1 gene in the examined groups

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