Association of GSTM1 (del),GSTP1 (Ile105Val) genetic polymorphisms and smoking in the family with congenital malformations

Cover Page

Cite item

Full Text

Abstract

Background. The association of GSTM1 (del) and GSTP1 (Ile105Val) polymorphisms with congenital malformations (CMs) actively studied. However, the results of various studies are conflicting. This study aims to investigate the association of GSTM1 (del), GSTP1 (Ile105Val) genetic polymorphisms and smoking in the family with congenital malformations in the newborn. Method. We studied 94 newborn with CMs and 125 healthy newborn. Null genotype of GSTM1 was identified through multiplex real-time PCR, and GSTP1 gene (Ile105Val) polymorphism was determined through TaqMan-real-time PCR. Results. The study showed that polymorphic loci of GSTM1 (del) and GSTP1 (Ile105Val) genes were not associated with the risk of congenital malformations in the newborn (P = 0,46 and P = 0,47). When comparing the frequencies of genotypes the GSTP1 (Ile105Val) gene in newborn with CMs in the families of smokers with those of healthy newborn in non-smoking families statistically significant differences between them were found (P = 0,02). The genotype Ile/Val in children was associated with CMs (ORg + f = 2,59; 95 % CI: 1,05- 6,35), while the homozygous genotype Ile/Ile in newborn was associated with a protective effect to CMs (ORg + f = 0,30; 95 % CI: 0,12-0,72). Possibly, the association of the homozygous genotype Val/Val did not reach statistical significance due to a small number of children surveyed. Conclusion. The smoking in the family increases the risk of CMs in the newborn with genotypes of GSTP1 gene (Ile105Val) polymorphism.

About the authors

Irina Viktorovna Shatalina

Institute of Human Ecology of the Siberian Branch of the RAS

Email: irina_ve@mail.ru
biological engineer. Lab. of immunogenetics

Yuliya Valerievna Gareeva

M. A. Podgorbunskiy municipal clinical hospital N 3

Email: gareeva.j@bk.ru
neonatologist

Lyudmila Aleksandrovna Gordeeva

Institute of Human Ecology of the Siberian Branch of the RAS

Email: gorsib@rambler.ru
candidate of biological sciences. Head of Laboratory immunogenetics

Elena Nikolaevna Voronina

Institute of Chemical Biology and Fundamental Medicine SB RAS

Email: voronina_l@inbox.ru
candidate of biological sciences, jounior researcher. Laboratory of pharmacogenomics

Irina Mikhaylovna Sutulina

Kemerover State Medical Academy (KemSMA)

Email: sutulinaim@rambler.ru
candidate of medical sciences. Dept. of Faculty Pediatrics

Maksim Leonidovich Filipenko

Institute of Chemical Biology and Fundamental Medicine SB RAS

Email: max@niboch.nsc.ru
candidate of biological sciences, Head of Laboratory pharmacogenomics

References

  1. Вавилин В. А., Часовникова О. Б, Ляхович В. В. с соавт. (2000) Генетический полиморфизм глутатион-S-трансферазыM1 и T1 у детей, больных бронхиальной астмой. Вопросы медицинской химии. № 4: C. 388-397.
  2. Гуляева Л. Ф., Вавилин В. А., Ляхович В. В. (2000) Ферменты биотрансформации ксенобиотиков в химическом канцерогенезе. Новосибирск: серия «Экология». 85 с.
  3. МКБ 10 - Международная классификация болезней 10-го пересмотра UIRL: http://mkb-10.com/.
  4. Сокова Е. А. (2008) Особенности системы биотрансформации лекарственных средств в фетоплацентарном комплексе. Биомедицина. № 1: С. 14-25.
  5. Ступко Е. Е., Шенин В. А., Колесникова Л. И. с соавт. (2011) Роль полиморфизмов генов детоксикации ксенобиотиков в развитии миомы матки и эндометриоза. Сибирский медицинский журнал. № 5: С. 5-8.
  6. Cresci M., Foffa I., Ait-Ali L. et al. (2011) Maternaland Paternal Environmental Risk Factors, Metabolizing GSTM1 and GSTT1 Polymorphisms, and Congenital Heart Disease. Am. J. Cardiol. V.108: P. 1625-1631.
  7. Cresci M., Foffa I., Ait-Ali L. et al. (2013) Maternal and Paternal Environmental Risk Factors, Metabolizing GSTM1 and GSTT1 Polymorphisms, and Congenital Heart Disease. Pediatr. Cardiol. V. 34 (2). P. 281-285.
  8. Filonzi L., Magnani C., de΄ Angelis G. L. et al. (2010)Evidence That Polymorphic Deletion of the Glutathione S-Transferase Gene, GSTM1, is Associated with Esophageal Atresia. Birth Defects Research (Part A). V. 88: P. 743-747.
  9. Garte S., Gaspari L., Alexandrie A.-K. et al. (2001)Metabolic Gene Polymorphism Frequencies in Control Populations. Cancer Epidemiol. Biomarkers, Prev. V. 10: P. 1239-1248.
  10. Gordeeva L. A., Voronina E. N., Sokolova E. A. et al. (2013) Association GSTT1, GSTM1 and GSTP1 (Ile105Val) genetic polymorphisms in mothers with risk of congenital malformations in their children in Western Siberia: a case-control study. Prenatal Diagnosis. V. 33 (11): P. 1095-101.
  11. Hayes J. D., Flanagan J. U., Jowsey I. R. (2005) Glutathione Transferases. Ann. Rev. Pharmacol. Toxicol. V. 45: P. 51-88.
  12. Morales E., Sunyer J., Julvez J. et al. (2009) GSTM1 polymorphisms modify the effect of maternal smoking during pregnancy on cognitive functioning in preschoolers. Int. J. Epidemiol. V. 38 (3): P. 690-697.
  13. Obolenskaya M., Teplyuk N., Sasonova L. et al. (2004) Glutathionetransferase activity and PAH-DNA adducts in human placenta as a risk factor for newborn in radioactively contaminated regions. International Journal of Radiation Medicine. V. 6 (1-4): P.154-166.
  14. Raijmakers M. T., Steegers E. A., Peters W. H. (2001). Glutathione S-transferases and thiol concentrations in embryonic and early fetal tissues. Hum Rep. V. 16: P. 2445-2450.
  15. Ramirez D., Lammer E. J., Iovannisci D. M. et al. (2007) Maternal Smoking During Early Pregnancy, GSTP1 and EPHX1 Variants, and Risk of Isolated Orofacial Clefts. Cleft Palate-Craniofacial Journal. V. 44 (4): P. 366-373.
  16. Shaw G. M., Nelson V., Iovannisci D. M. et al. (2003) Maternal Occupational Chemical Exposures and Biotransformation Genotypes as Risk Factors for Selected Congenital Anomalies. Am. J. Epidemiol. V. 157: P. 475-484.
  17. Tests for deviation from Hardy-Weinberg equilibrium and tests for association. Cited 08.09.2014. URL: http://ihg.gsf.de/cgi-bin/hw/hwa1.pl.

Copyright (c) 2014 Shatalina I.V., Gareeva Y.V., Gordeeva L.A., Voronina E.N., Sutulina I.M., Filipenko M.L.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
 


This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies