ALLELES AND GENOTYPES DISTRIBUTION OF XENOBIOTIC BIOTRANSFORMATION GENES IN MOTHERS OF CHILDREN WITH CONGENITAL HEART DISEASES

DOI: https://doi.org/10.29296/24999490-2019-06-06

A.V. Tsepokina(1), A.V. Shabaldin(1), A.V. Ponasenko(1), S.A. Shmulevich(2) 1-Research Institute for Complex Issues of Cardiovascular Diseases, Kemerovo, 650002, Sosnoviy blvd, 6, Russian Federation; 2-Kemerovo Cardiology Dispensary, Kemerovo, 650002, Sosnoviy blvd, 6, Russian Federation E-mail: [email protected]

Introduction. In this research the frequency of variant alleles of genes for xenobiotic biotransformation in women living in a highly urbanized region of Western Siberia and having children with congenital heart diseases was studied. Materials and methods. Women having children with congenital heart diseases (n=101) and the comparison group included mothers who have more than one child without this pathology, birth defects and developmental abnormalities (n=103) were examined in the present study. The genotyping was performed by PCR in 10 polymorphic variants of four xenobiotics biotransformation genes. Results. We found no statistically significant differences in the distribution of alleles and genotypes of polymorphic variants of xenobiotics biotransformation genes in Russian women residing in the highly urbanized region and having both healthy children and children with congenital heart defects.
Keywords: 
сongenital heart diseases, polymorphism, xenobiotics
Список литературы: 
  1. Bokerija L.A,, Gudkova R.G., Serdechno-sosudistaja hirurgija – 2015. Bolezni i vrozhdennye anomalii sistemy krovoobraschenija. M.: NTsSSH im. A.N. Bakuleva, 2016; 208. [Bokerija LA, Gudkova RG, Serdechno-sosudistaja hirurgija – 2015. Bolezni i vrozhdennye anomalii sistemy krovoobrashhenija. M.: NCSSH im. A.N. Bakuleva, 2016; 208 (in Russian)]
  2. Shabaldin A.V., Glebova L.A., Bachina A.V., Schastlivtsev E. L., Potapov V. P. Osobennosti epidemiologii vrozhdennyh porokov serdtsa u detej g. Kemerovo kak krupnogo promyshlennogo tsentra. Kompleksnye problemy serdechno-sosudistyh zabolevanij. 2014; 4: 38–46. https://doi.org/10.17802/2306-1278-2014-4-38-46 [Shabaldin A.V., Glebova L.A., Bachina A.V., Schastlivtsev E.L., Potapov V.P. Features of epidemiology of congenital heart diseases at children Kemerovo, as large industrial centre. Complex Issues of Cardiovascular Diseases. 2014; 4: 38–46 (in Russian)] https://doi.org/10.17802/2306-1278-2014-4-38-46
  3. Foster W.G., Evans J.A., Little J., Arbor L., Moore A., Sauve R., Andrés L.J., Luo W. Human exposure to environmental contaminants and congenital anomalies: a critical review. Critical reviews in toxicology.2017; 47 (1): 59–84. https://doi.org/10.1080/10408444.2016.1211090
  4. Vecoli C., Pulignani S., Foffa I., Andreassi M.G. Congenital heart disease: the crossroads of genetics, epigenetics and environment. Currentgenomics. 2014; 15 (5): 390–9. https://doi.org/10.2174/1389202915666140716175634
  5. Krasil'nikova K.S., Polenok E.G., Anosova T.P. i dr. Assotsiatsija immunnogo otveta na ksenoiendobiotiki i polimorfizma genov fermentov ih biotransformatsii s vozniknoveniem vrozhdennyh porokov razvitija ploda. Bjulleten' Vostochno-Sibirskogo nauchnogo tsentra Sibirskogo otdelenija Rossijskoj akademii meditsinskih nauk. 2012; 3–2: 96–9. [Krasilnikova K.S., Polenok E.G., Anosova T.P. et al. The association of immune response to xeno- and endobiotiks and theirs biotransformation enzyme gene polymorphism with congenital malformations of the fetus. Bulletin of the East Siberian Scientific Center SBRAMS. 2012; 3–2: 96–9 (in Russian)]
  6. Chen W.B., Wei X.J., Chen S.Y., Guo W.Y. Association of glutathione S-transferases M1 and T1 genomic polymorphisms with risk of congenital heart disease in Chinese Han population. South China J. of Cardiovascular Diseases. 2013; 4: 022. https://doi.org/10.4103/2277-9175.179185
  7. Li X., Liu Z., Deng Y., Li S., Mu D., Tian X., Lin Y., Yang J., Li J., Li N., Wang Y., Chen X., Deng K., Zhu J. Modification of the association between maternal smoke exposure and congenital heart defects by polymorphisms in glutathione S-transferase genes. Scientific Reports. 2015; 5: 14915. https://doi.org/10.1038/srep14915
  8. Cresci M., Foffa I., Ait-Ali L., Pulignani S., Kemeny A., Gianicolo E.A., Andreassi M.G. Maternal environmental exposure, infant GSTP1 polymorphism, and risk of isolated congenital heart disease. Pediatr Cardiol. 2013; 34 (2): 281–5. https://doi.org/10.1007/s00246-012-0436-z.
  9. Jenkins K.J., Correa A., Feinstein J.A., Botto L., Britt A.E., Daniels S.R., Elixson M., Warnes C.A., Webb C.L. Noninherited risk factors and congenital cardiovascular defects: current knowledge. Circulation. 2007; 115: 2995–3014. https://doi.org/10.2174/1389202915666140716175634
  10. Cresci M., Foffa I., Ait-Ali L., Pulignani S., Gianicolo E.A., Botto N., Picano E., Andreassi M.G. Maternal and paternal environmental risk factors, metabolizing GSTM1 and GSTT1 polymorphisms, and congenital heart disease. Am. J. Cardiol. 2011; 108 (11): 1625–31. https://doi.org/10.1016/j.amjcard.2011.07.022.
  11. Mashkina E.V., Saraev K.N., Butenko E.V., Volosovtsova G.I., Shkurat T. The Association of Early Pregnancy Loss with Polymorphism in Xenobiotics Detoxification Genes. American Journal of Applied Sciences. 2015; 12 (3): 185. https://doi.org/10.3844/ajassp.2015.185.190
  12. Shatalina I.V., Gordeeva L.A., Voronina E.N., Popova O.S., Sokolova E.A., Ermolenko N.A., Gareeva Ju. V., Filipenko M. L., Glushkov A. N. Assotsiatsii kurenija, materinskih polimorfnyh variantov genov GST lokusov M1 i T1 s predraspolozhennost'ju k vrozhdennym porokam razvitija u rebenka. Meditsina v Kuzbasse. 2014; 3: 56–60. [Shatalina I.V., Gordeeva L.A., Voronina E.N., Popova O.S., Sokolova E.A., Ermolenko N.A., Gareeva Yu.V., Philipenko M.L., Glushkov A.N. Association of smoking, maternal polymorphic variants of genes GST loci M1 and T1 with a predisposition to congenital malformations in the child. Medicine in Kuzbass. 2014; 3: 56–60 (in Russian)]
  13. Shvetsov Ja.D., Lazarev K.Ju., Bushueva O.Ju., Brajko O.P., Golubtsov V.I., Polonikov A.V. Issledovanie assotsiatsii polimorfizma I462V gena CYP1A1 s razvitiem vrozhdennogo defekta mezhzheludochkovoj peregorodki serdtsa v Krasnodarskom krae. Nauchnye vedomosti BelGU. Serija: Meditsina. Farmatsija. 2015; 10 (207): 108–12. [Shvetsov Y.D., Lazarev K.Yu., Bushueva O.Yu., Braiko O.P., Golubtsov V.I., Polonikov A.V. Association study of polymorphism I462V of the CYP1A1 gene with the development of congenital ventricular septal defect in Krasnodar region. Scientific bulletins of BelSU. Series: Medicine. Pharmacy. 2015: 10 (207): 108–12 (in Russian)]
  14. Lazarev K. Ju., Brajko O. P., Golubtsov V. I., Schvetsov Ja.D., Polonikov A.V. Molekuljarno-geneticheskij analiz polimorfizmov Val432Leu gena CYP1B1, G590A gena NAT2 i S3435T gena ABCB1 u detej s izolirovannym defektom predserdnoj peregorodki v Krasnodarskom krae. Nauchnye vedomosti BelGU. Serija: Meditsina. Farmatsija. 2013; 18 (161): 152–7.
  15. [Lazarev K.U., Brayko O.P., Golubcov V.I., Shvetsov Y.D., Polonikov A.V. The molecular genetic analysis of polymorphisms Val432Leu gene CYP1B1, G590A gene NAT2 and C3435T gene ABCB1 in children with the isolated atrial defect in Krasnodar region. Scientific bulletins of BelSU. Series: Medicine. Pharmacy. 2013; 18 (161): 152–7 (in Russian)]