Association of inherited thrombophilia gene polymorphism with sporadic and recurrent miscarriages

  • L. B. Chorna
  • H.V. Makukh
  • D.V. Zastavna
  • Ya.Yu. Zaganyach
  • O.I. Kolodiy
  • O.V. Kovtun


Aim. Despite numerous scientific studies of possible causes of miscarriage, their etiology remains unclear in approximately 50% of cases. Investigate the prevalence of thrombophilia associated gene polymorphism FGB 455G/A, FII 20210 G/A, FV 1691G/A, ITGA2 807C/T, PAI-1 5G/4G and MTHFR 677C/T in women with sporadic and recurrent miscarriages. Methods. Group I included 35 women with sporadic miscarriage (SM), group II consisted of 57 women with recurrent miscarriage (RM) and 55 women of control group. Genetic testing was performed by PCR-RFLP. Results. In group I of women with SM the 455GA genotype of the FGB gene was more common and its presence in the genotype increases the risk of SM by 4 times and the presence of the 455A allele by 2 times. The Leiden mutation increases the risk of SM by 5 times. In II group of women with RM, the frequency of the 455 AA genotype of the FGB gene was more prevalent and the risk of RM was increased 2.5 times. It is shown that the risk of RM increases 4 times in the presence of the Leiden mutation. The 4G allele of the PAI-1 5G/4G polymorphism leads to a 2-fold increase in the risk of RM, and the presence of the 677TT genotype of the MTHFR gene increases the risk of RM by 3 times. Conclusions. Genetic factors of inherited thrombophilia alleles 455A of the FGB gene, 1691A of the FV gene, 4G of the PAI-1 gene and 677T of the MTHFR gene are alleles of significant risk of reproductive losses both sporadic and, to a greater extent, recurrent.

Keywords: sporadic miscarriage, recurrent.miscarriage, inherited thrombophilia, genetic polymorphism.


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