Influence of ABCB1 gene polymorphism encoding P-glycoprotein on congenital malformations
Objective. To assess the influence of the ABCB1 gene polymorphism on the risk of congenital malformations (CM) among pregnant women in the Russian Federation. Patients and methods. This prospective study included 170 mother-baby pairs. The study group consisted of 87 pairs and included children with CM. The control group included 83 pairs without Cm in children. Genotyping of the ABCB1 gene polymorphism rs1045642 in mothers and children in the study group and in mothers in the control group was performed by CFX-96 real-time PCR amplification. The frequencies of alleles and genotypes in children with folate-dependent and folate-independent malformations were analyzed in children and their mothers. Results. No association of CM with the ABCB1 gene polymorphism rs1045642 was found. However, women who gave birth to children with CM tended to have a lower frequency of the 3435T allele and the 3435TT genotype and a higher frequency of the 3435CC genotype. Significant differences in the frequencies of the gene polymorphism rs1045642 (p = 0.036) were observed among women who gave birth to children with folate-dependent and folate-independent CM, which was associated with a higher frequency of heterozygous genotype 3435ST in the mothers of children with folate-independent CM. This result needs to be confirmed by further studies. Conclusion. Significant differences in the frequencies of the genotypes of rs1045642 polymorphism in women who gave birth to children with folate-dependent and folate-independent CM were revealed.