<abstract xmlns="http://www.w3.org/1999/xhtml"><bold>Introduction.</bold> The purpose of this study was to compare the role of the thrombophilic variants among two groups of high risk patients with vascular disorders and recurrent pregnancy loss.<bold>Methods.</bold> 200 patients, including 76 with thrombotic accidents and 124 with two or more idiopathic recurrent miscarriage during the first trimester, were tested for the presence of Factor V (F V) Leiden G1691A, Factor II (F II) G20210A, plasminogen activator inhibitor (PAI) 4G/5G, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms using Real time polymerase chain reaction (RT – PCR) in the Laboratory of Medical Genetics, Varna, Bulgaria between June 2016 and May 2019. Frequencies of thrombophilic gene polymorphisms were compared among the two populations and to the expected genotype frequencies.<bold>Results.</bold> Individuals with a history of vascular disorders had a significantly higher frequency of F V Leiden variant compared to women with recurrent miscariage. There was no statistical difference between the analyzed patients for the other three thrombophilic polymorphisms. The allelic frequencies and the expected genotype frequencies of the F V, F II and MTHFR polymorphisms were calculated according to Hardy-Weinberg equilibrium. The percentages of the homozygotes for F V and F II were higher than expected in the two groups of patients. For the MTHFR there was no difference.<bold>Conclusion.</bold> F V Leiden remains the strongest risk factor for vascular disorders and recurrent pregnancy loss. Screening for this variant should be recommended to patients with thrombotic accidents and women with repeated miscarriage. The role of F II, PAI and MTHFR remains controversial.</abstract>

Introduction. The purpose of this study was to compare the role of the thrombophilic variants among two groups of high risk patients with vascular disorders and recurrent pregnancy loss.Methods. 200 patients, including 76 with thrombotic accidents and 124 with two or more idiopathic recurrent miscarriage during the first trimester, were tested for the presence of Factor V (F V) Leiden G1691A, Factor II (F II) G20210A, plasminogen activator inhibitor (PAI) 4G/5G, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms using Real time polymerase chain reaction (RT – PCR) in the Laboratory of Medical Genetics, Varna, Bulgaria between June 2016 and May 2019. Frequencies of thrombophilic gene polymorphisms were compared among the two populations and to the expected genotype frequencies.Results. Individuals with a history of vascular disorders had a significantly higher frequency of F V Leiden variant compared to women with recurrent miscariage. There was no statistical difference between the analyzed patients for the other three thrombophilic polymorphisms. The allelic frequencies and the expected genotype frequencies of the F V, F II and MTHFR polymorphisms were calculated according to Hardy-Weinberg equilibrium. The percentages of the homozygotes for F V and F II were higher than expected in the two groups of patients. For the MTHFR there was no difference.Conclusion. F V Leiden remains the strongest risk factor for vascular disorders and recurrent pregnancy loss. Screening for this variant should be recommended to patients with thrombotic accidents and women with repeated miscarriage. The role of F II, PAI and MTHFR remains controversial.

Comparison between thrombophilic gene polymorphisms among high risk patients

, St. Marina Hospital, 1 Hristo Smirnenski Blv, Varna, 9000,

Romanian Journal of Internal Medicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

{"article-title":"Comparison between thrombophilic gene polymorphisms among high risk patients"}

Introduction. The purpose of this study was to compare the role of the thrombophilic variants among two groups of high risk patients with vascular disorders...

Comparison between thrombophilic gene polymorphisms among high risk patients

Published Online: Mar 03, 2020

Page range: 20 - 26

Received: Jul 31, 2019

DOI: https://doi.org/10.2478/rjim-2019-0021

Keywords
thrombophilia, Factor V, vascular diseases, miscarriage, genetic polymorphism

© 2020 Mariya Levkova et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Comparison between thrombophilic gene polymorphisms among high risk patients

Published Online: Mar 03, 2020

Page range: 20 - 26

Received: Jul 31, 2019

DOI: https://doi.org/10.2478/rjim-2019-0021

Keywordsthrombophilia, Factor V, vascular diseases, miscarriage, genetic polymorphism

© 2020 Mariya Levkova et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Keywords
thrombophilia, Factor V, vascular diseases, miscarriage, genetic polymorphism