Dr Arthur Conan Doyle: The first portfolio GP?

摘要

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. Method: 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. Conclusion: Homozygous deletion of the GSTT1 gene in women of the West Siberian region is a risk factor for birth defects in the child. GST gene polymorphism loci T1 (del), M1 (del) and P1 (Ile105Val) may increase the risk of CMs in the offspring's. Frequency distribution of genotypes of these genes can vary from population to population. In the present study, we examined the association of maternal GST gene polymorphisms with susceptibility to CMs of the offspring's, including their individual types in the Russian ethnic group.