Prevalence of F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms in Bosnian women with pregnancy loss.

Emir Mahmutbegovic,Serkan Dogan,Nevena Mahmutbegovic,Edin Medjedovic,Ewa Czerska,Damir Marjanovic,Anna Pawińska-Matecka,Grazyna Adler,Agnieszka Madlani,Amina Valjevac

doi:10.17305/bjbms.2017.1954

Abstract

The relationship between genetic risk factors of thrombophilia and pregnancy loss (PL) is being discussed. The focus has been on F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms that may predispose women to microthrombosis during the stages of embryo implantation and placentation. Although, the frequencies of these polymorphisms were reported in different populations, such studies have not yet been performed in Bosnian population. In this study, we determined the prevalence of F5 G>A (rs6025), F2 G>A (rs1799963) and MTHFR C>T (rs1801133) polymorphisms in Bosnian women. A total of 154 women with PL, mean age 33 (±5.4) years, were enrolled in the study. As a control group, 154 mothers [mean age 31.4 (±6.7) years] with at least one live-born child were included. We used real-time polymerase chain reaction (PCR) to determine the frequencies of F5 G>A and F2 G>A genotypes, and PCR-restriction fragment length polymorphism (RFLP) for analyzing MTHFR C>T genotypes. The frequency of heterozygotes for F5 and F2 was significantly higher in women with venous thrombosis (VT) compared to women without VT (p = 0.047 and p = 0.001, respectively). There was no significant difference in the distribution of MTHFR genotypes and alleles between these two groups. In addition, we observed no significant differences in the genotype and allele frequencies between the group with PL and control group, for all investigated polymorphisms. The allele frequencies for 1691A (F5), 20210A (F2), and 677T (MTHFR) reported in this study are consistent with the data obtained for other European countries, however, we were not able to confirm the association between the three polymorphisms and PL in Bosnian women.

Highlights

There is a growing evidence that women with thrombophilia are at increased risk, for pregnancy-related venous thromboembolism (VTE), and for other vascular complications in pregnancy, such as fetal loss, pre-eclampsia (PE) and intrauterine growth restriction (IUGR) [1]
A positive family history of venous thrombosis (VT) was more frequent in the group of women with pregnancy loss (PL), 24.7% (n = 38) compared to the control group, 16.2% (n = 25), and this difference was statistically significant (χ2 = 3.372; p = 0.045)
Both groups were in Hardy–Weinberg equilibrium (HWE), and we observed no significant differences in the genotype and allele frequencies between the group with PL and control group, for all investigated polymorphisms (p > 0.05)

Summary

Introduction

There is a growing evidence that women with thrombophilia are at increased risk, for pregnancy-related venous thromboembolism (VTE), and for other vascular complications in pregnancy, such as fetal loss, pre-eclampsia (PE) and intrauterine growth restriction (IUGR) [1].According to the definition, pregnancy loss (PL) is the spontaneous abortion of an embryo or fetus before the Submitted: 24 January 2017/Accepted: 01 April 201720th week of pregnancy or when the fetus weighs A is responsible for 3-42% of PL [5]

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