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

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.

The Frequency of the 677C>T and 1298A>C Polymorphisms in the Methylenetetrahydrofolate Reductase (MTHFR) Gene in the Population

“…The frequency of the MTHFR 677C>T and 1298A>C polymorphisms varies in different geographical regions of the world and among different ethnic groups. Although the frequency of MTHFR 677C>T polymorphism has been established ( 3 , 4 ), MTHFR 1298A> C polymorphism has not been investigated in Bosnia and Herzegovina so far. The aim of this study was to determine the frequency of 677C>T and 1298A>C polymorphisms in the methylenethetrahydrofolate reductase ( MTHFR ) gene in peripheral blood samples of healthy subjects from the population using the polymerase chain reaction (PCR) and the restriction fragment length polymorphism (RFLP) method.…”

First Bosnian Study of the Relationship between APOE rs7412 and rs429358 Variants and Pregnancy Loss

“…An increasing body of evidence suggests that PL and recurrent PL (RPL) may be caused by both environmental and genetic factors (Chin et al, 2013;Kusturica et al, 2014;Mahmutbegovic et al, 2017;Sugiura-Ogasawara et al, 2017). In a successful course of pregnancy, among many factors of homeostasis, the balance between inflammatory agents and anti-inflammatory cytokines is essential (Vassiliadis et al, 1998).…”

Evaluating the Association Between Genetic Polymorphisms Related to Homocysteine Metabolism and Unexplained Recurrent Pregnancy Loss in Women

“… 29 , 30 The MTHFR 677T and 1298C allele frequencies depend on populations which were 16.8% and 27.7%, respectively, in controls of this study. 31 , 32 Moreover, the MTHFR 677T allele frequency was higher in the URPL than in the control group; statistical analysis showed the URPL risk of women carrying the allele increased 2.35-fold. Homozygote and heterozygote genotype (MTHFR 677TT, MTHFR 677CT) increased the risk of URPL significantly to 4.68 and 2.49, separately.…”