FOLATE-DEPENDENT CONGENITAL MALFORMATIONS AND ABCB1 GENE POLYMORPHISM

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Abstract

He high frequency of embryonic and fetal losses is caused by congenital malformations (CMFs). The significant contribution of CMFs to the structure of causes of infant deaths, diseases, and disability define their important medical and social values. The paper gives the results of the authors’ own study on the effect of ABCB1 gene polymorphism on the risk of congenital CMFs in the Russian population of pregnant women.

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About the authors

T. V Pikuza

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

Email: rtchilova@gmail.com

R. A Chilova

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

Email: rtchilova@gmail.com

доктор медицинских наук, профессор

E. A 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. E Kazakov

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

Email: rtchilova@gmail.com

кандидат биологических наук

E. V Zhukova

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

Email: rtchilova@gmail.com

кандидат медицинских наук, доцент

N. S Trifonova

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

Email: rtchilova@gmail.com

кандидат медицинских наук, доцент

E. V Shikh

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

Author for correspondence.
Email: rtchilova@gmail.com

доктор медицинских наук, профессор

References

  1. Bliek B.J., van Schaik R.H., van der Heiden I. et al. Maternal medication use, carriership of the ABCB1 3435C>T polymorphism and the risk of a child with cleft lip with or without cleft palate. Am J Med Genet A, 2009; 149 (10): 2088-92. doi: 10.1002/ajmg. a.33036
  2. Obermann-Borst S.A., Isaacs A., Younes Z. et al. General maternal medication use, folic acid, the MDR1 C3435T polymorphism, and the risk of a child with a congenital heart defect. Am J Obstet Gynecol. 2011; 204 (3): 236.e1-236.e8. doi: 10.1016/j.ajog.2010.10.911
  3. Wang C., Zhou K., Xie L. et al. Maternal Medication Use, Fetal 3435 C>T Polymorphism of the ABCB1 Gene, and Risk of Isolated Septal Defects in a Han Chinese Population. Pediatr Cardiol. 2014; 35 (7): 1132-41. doi: 10.1007/s00246-014-0906-6
  4. Жученко Л.А. Первичная массовая профилактика фолат-зависимых врожденных пороков развития. Первый российский опыт. Дисс.. д-ра мед. наук. М., 2009.
  5. Mavrogenis S., Czeizel A.E. Trends in the prevalence of recorded isolated hypospadias in Hungarian newborn infants during the last 50 years - a population-based study. Reprod Toxicol. 2013; 42: 251-5. doi: 10.1016/j.reprotox.2013.09.007
  6. Ozkur M., Dogulu F., Ozkur A. et al. Association of the Gln27Glu polymorphism of the beta-2-adrenergic receptor with preterm labor.Int J Gynaecol Obstet. 2002; 77: 209-15.

Supplementary files

Supplementary Files
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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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