Polymorphisms of 1691G>A and 4070A>G FV in Bosnian women with pregnancy loss

The 1691G>A FV polymorphism is considered to be one of the leading genetic risk factors of pregnancy loss. Recently, also other heritable factors of thrombophilia that may predispose to microthrombosis mainly in trophoblast or placenta leading to obstetrical complications attract an attention. In recent studies it was found that both, 1691G>A FV and 4070 A>G FV polymorphisms may increase risk of pregnancy loss, and double heterozygosity for 1691G>A FV and 4070A>G FV conferred a 3- to 4-fold increase in the relative risk of venous thromboembolism compared with 1691G>A FV alone. Aim: We decided to determine the prevalence of 1691G>A FV (rs6025) and 4070A>G FV (rs1800595) polymorphisms in women with pregnancy loss, as well as in women without previous miscarriages. Another aim was to determine the possible association between 1691G>A and 4070A>G FV polymorphisms and a risk of pregnancy loss. Material and methods: Based on medical history, 154 women, mean age 33.0 (±5.4) years, that had one or more spontaneous pregnancy loss and 154 women without previous pregnancy loss with at least one live-born child, mean age 31.4 (±6.7) years were enrolled. Following DNA isolation from buccal swabs, real-time PCR for 1691G>A FV and PCR-RFLP for 4070A>G FV were done. Results: In woman with pregnancy loss we identified: 142 GG homozygotes, 12 GA heterozygotes and none AA homozygotes of 1691G>A FV, and 125 AA homozygotes, 27 AG heterozygotes and 2 GG homozygotes of 4070A>G FV, while in controls 142 GG homozygotes, 12 GA heterozygotes and none AA homozygotes of 1691G>A FV and 123 AA homozygotes, 28 AG heterozygotes and 3 GG homozygotes of 4070A>G FV. The prevalence of 1691G>A and 4070A>G FV polymorphisms are consistent with data for other European populations. We observed coinheritance mutated alleles 1691A and 4070G in 3 women with pregnancy loss, but it was not statistically significant compared to the control group,(p>0.05. We did not observe any differences in the prevalence of the genotypes and frequency of alleles in women with pregnancy loss compared to women without pregnancy loss, (p>0.05). Conclusion: Our results, did not confirm association between the prevalence of 1691G>A and 4070A>G FV and pregnancy loss in Bosnian women.