title: 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.
abstract: OBJECTIVE
  Polymorphisms of glutathione S-transferase (GST) genes in mothers may be involved in teratogenesis in their offspring. This study aims to investigate the association of GST genes (T1, M1 and P1) with the risk of having children with congenital malformations (CMs) in residents of the West Siberian region of Russia.
  
  
  METHODS
  We studied 235 women with offspring's with CMs, and 273 women with one or more healthy children. Null genotypes of GSTM1 and GSTT1 were identified through multiplex real-time polymerase chain reaction, and GSTP1 gene (Ile105Val) polymorphism was determined through TaqMan-real-time polymerase chain reaction.
  
  
  RESULTS
  The study showed that the maternal genotype GSTT1 «0/0» is associated with CMs in the offspring (odd ratio (OR) = 3.63, P = 5.18 × 10(-9) ). A significant association of the maternal genotype GSTT1 «0/0» with CMs of the cardiovascular system (OR = 5.03, P = 2.93 × 10(-7) ), urinary system (OR = 4.20, P = 3.51 × 10(-6) ) and central nervous system (OR = 4.40, P = 6.69 × 10(-5) ) was found in the child. No association of maternal GSTM1 (del) and GSTP1 (Ile105Val) genetic polymorphisms with CMs of the child was identified.
  
  
  CONCLUSIONS
  Homozygous deletion of the GSTT1 gene in women of the West Siberian region is a risk factor for birth defects in the child.
authors.affiliation: Institute of Human Ecology SB RAS, Kemerovo, Russia.
authors.forename: Lyudmila A
authors.initials: LA
authors.lastname: Gordeeva
authors.forename: Elena N
authors.initials: EN
authors.lastname: Voronina
authors.forename: Ekaterina A
authors.initials: EA
authors.lastname: Sokolova
authors.forename: Natalia A
authors.initials: NA
authors.lastname: Ermolenko
authors.forename: Julia V
authors.initials: JV
authors.lastname: Gareeva
authors.forename: Irina M
authors.initials: IM
authors.lastname: Sutulina
authors.forename: Tatiana A
authors.initials: TA
authors.lastname: Simonova
authors.forename: Maxim L
authors.initials: ML
authors.lastname: Filipenko
authors.forename: Andrej N
authors.initials: AN
authors.lastname: Glushkov
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D016022:Case-Control Studies; D000013:Congenital Abnormalities / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D051549:Glutathione S-Transferase pi / Q000235:genetics*; D005982:Glutathione Transferase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007532:Isoleucine / Q000235:genetics; D009035:Mothers; D011110:Polymorphism, Genetic; D011247:Pregnancy; D012307:Risk Factors; D012800:Siberia / Q000453:epidemiology; D014633:Valine / Q000235:genetics; D055815:Young Adult
chemical_list: D051549:Glutathione S-Transferase pi; D005982:Glutathione Transferase; D007532:Isoleucine; D014633:Valine; C413545:glutathione S-transferase T1; C496556:GSTP1 protein, human