DNMT1 and DNMT3A Gene Polymorphisms and Early Pregnancy Loss

DNA methyltransferase DNMT3A and DMNT1 are required for de novo and maintenance methyltransferase activities that catalyze the establishment of methylation patterns during embryogenesis and gametogenesis. Inactivation of their genes may cause embryonic lethality. We conducted a case-control study to explore the association between DNMT3A rs7590760 , DNMT1 rs2228611 , and DNMT1 rs8101626 polymorphisms and early pregnancy loss susceptibility in Russian women. 100 women with early pregnancy loss (EPL) were involved and divided into two subgroups consisting of 50 women: sporadic pregnancy loss (SPL) and recurrent pregnancy loss (RPL). The control group included 56 women with full term pregnancies. Genotyping was performed using PCR-RFLP methods. GG genotype and allele G of DNMT1 rs2228611 were significantly associated with EPL and RPL, and GG genotype of DNMT1 rs8101626 with EPL, SPL and RPL. Our findings have shown that women carrying GG genotype of DNMT1 rs2228611 had a higher risk of EPL and RPL (OR = 3.0, 95% CI: 1.44–6.23; OR = 3.94, 95% CI: 1.92–8.09 respectively) as well as that carrying GG genotype of DNMT1 rs8101626 are at higher risk of EPL and RPL (OR = 2.64, 95% CI: 1.2– 5.76). Conclusion: our results suggest that DNMT1 rs2228611 and DNMT1 rs8101626 gene polymorphisms are associated with early pregnancy loss and can be a genetic risk factor for recurrent pregnancy loss.