Archives of Gynecology and Obstetrics

, Volume 300, Issue 3, pp 777–782 | Cite as

Hereditary thrombophilia genetic variants in recurrent pregnancy loss

  • Najmeh Ahangari
  • Mohammad Doosti
  • Nezhat Mousavifar
  • Matin Attaran
  • Sima Shahrokhzadeh
  • Sara Memarpour
  • Ehsan Ghayoor KarimianiEmail author
Gynecologic Endocrinology and Reproductive Medicine



The relationship between thrombophilia genes and recurrent pregnancy loss has been discussed. The aim of this study was to investigate the association between of MTHFR C677T, A1298C, F2G20210A, and F5 G1691A genetic variants among Iranian women with recurrent miscarriage.


A total of 245 women with two or more recurrent pregnancy loss, with mean age years were enrolled in the study. To compare genotypes, we have selected 250 healthy women without history of miscarriage as control group. Genomic DNA of participants was evaluated using polymerase chain reaction followed by Sanger sequencing to determine the genotype frequency.


The mean age were 32.16 ± (21–42) and 31.81 ± (19–40) for case and control groups respectively. MTHFR C677T and A1298C mutant alleles were found to be significantly more prevalent in patients than control. However, F2G20210A and F5 G1691A genetic variants showed no significance.


The allele frequencies for the assessed genotypes in this study are consistent with the data obtained for other countries. We observed significant susceptible effects of MTHFR C677T, and A1298C among participants. According to the relatively high prevalence of these variants, we recommend genetic testing for women with RPL before therapeutic decisions.


Thrombophilia Variants MTHFR Recurrent pregnancy loss 


Author contributions

NA: experiments, data analysis, writing manuscript. MD: bioinformatics. NM: clinical examination and gynecology. MA: clinical examination and gynecology. SS: experiments. SM: writing manuscript. EGK: genetic counseling, manuscript revision.


This study was supported by Next Generation Genetic Polyclinic.

Compliance with ethical standards

Conflict of interest

The authors declare no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Modern Sciences and Technologies, Faculty of MedicineMashhad University of Medical SciencesMashhadIran
  2. 2.Department of Modern Sciences and Technology, School of MedicineMashhad University of Medical SciencesMashhadIran
  3. 3.Department of Obstetrics and Gynecology, School of MedicineMashhad University of Medical SciencesMashhadIran
  4. 4.Department of Physiology, Faculty of MedicineMashhad University of Medical SciencesMashhadIran
  5. 5.Molecular and Clinical Sciences InstituteSt. George’s University of LondonLondonUK
  6. 6.Innovative Medical Research Center, Mashhad BranchIslamic Azad UniversityMashhadIran

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