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

DOI: https://doi.org/10.29296/25877305-2022-04-12

T. Pikuza(1), Professor R. Chilova(1), MD; Associate Professor E. Sokova(1, 2), Candidate of Medical Sciences, R. Kazakov(2), Candidate of Biological Sciences; E. Zhukova(1), Candidate of Medical Sciences; N. Trifonova(1), Candidate of Medical Sciences; Professor E. Shikh(1), MD; S. Mazur(3)
1-I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia
2-Research Center for Examination of Medical Products, Ministry of Health
of Russia, Moscow
3-OOO “Fertimed”. Moscow

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 СMs 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.

intrauterine malformations
ABCB1 gene polymorphism
folate-dependent abnormalities
folate-independent abnormalities

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