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