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DNMT1 and DNMT3A Gene Polymorphisms and Early Pregnancy Loss

Abstract

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 DNMT1rs8101626 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.

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Correspondence to M. M. Azova.

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Statement of compliance with standards of research involving humans as subjects. All procedures performed in studies involving human participants were in accordance with the ethical standards of the Local Ethics Committee of the Institute of Medicine of RUDN University and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all women involved in the study.

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Ahmed, A.A., Azova, M.M., Ramazanova, F.U. et al. DNMT1 and DNMT3A Gene Polymorphisms and Early Pregnancy Loss. Russ J Genet 56, 379–382 (2020). https://doi.org/10.1134/S1022795420030023

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Keywords:

  • early pregnancy loss
  • recurrent pregnancy loss
  • DNMT1
  • DNMT3A