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Hereditary thrombophilia genetic variants in recurrent pregnancy loss

  • Gynecologic Endocrinology and Reproductive Medicine
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Background

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.

Methods

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.

Results

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.

Conclusion

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.

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Funding

This study was supported by Next Generation Genetic Polyclinic.

Author information

Authors and Affiliations

  1. Department of Modern Sciences and Technologies, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

    Najmeh Ahangari, Mohammad Doosti, Sima Shahrokhzadeh & Ehsan Ghayoor Karimiani

  2. Department of Modern Sciences and Technology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

    Najmeh Ahangari

  3. Department of Obstetrics and Gynecology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

    Nezhat Mousavifar & Matin Attaran

  4. Department of Physiology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

    Sara Memarpour

  5. Molecular and Clinical Sciences Institute, St. George’s University of London, Cranmer Terrace, London, UK

    Ehsan Ghayoor Karimiani

  6. Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran

    Ehsan Ghayoor Karimiani

Authors
  1. Najmeh Ahangari
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  2. Mohammad Doosti
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  3. Nezhat Mousavifar
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  7. Ehsan Ghayoor Karimiani
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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.

Corresponding author

Correspondence to Ehsan Ghayoor Karimiani.

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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.

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

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Ahangari, N., Doosti, M., Mousavifar, N. et al. Hereditary thrombophilia genetic variants in recurrent pregnancy loss. Arch Gynecol Obstet 300, 777–782 (2019). https://doi.org/10.1007/s00404-019-05224-7

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  • DOI: https://doi.org/10.1007/s00404-019-05224-7

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