Abstract
Some cases of reproductive disorders have a thrombotic etiology. Considering the importance of establishing the cause of miscarriage, we investigated the incidence and associated risks of the most common thrombophilic genes polymorphism - FV G1691A, FV H1299A, Prothrombin G20210A, PAI-1, Factor XIII V34L, MTHFR C677T, MTHFR A1298C and EPCR genes, in women with reproductive disorders. In our research we included 139 women with reproductive disorders and risk for hereditary trombophilia and 139 healthy females without any personal or family history of vein thrombosis or recurrent pregnancy loss. For detection of thrombophilic genes polymorphism we used CVD StripAssay�(ViennaLab, Austria) and the tests� protocols were followed as described by the manufacturer. Our results showed that the concomitant presence of MTHFR A1298C and Factor XIII V34L gene polymorphism had a significant association for recurrent pregnancy loss, while FV H1299A (R2) and MTHFR A1298C gene polymorphisms were correlated with subfertility. We therefore consider that these patients should be recognized as high risk for poor pregnancy outcomes and monitored with specialized follow-up.
Highlights
Some cases of reproductive disorders have a thrombotic etiology
Rare allele of 4600A/G is associated with increased plasma levels of soluble endothelial protein C receptor (EPCR), its association with risk of thrombosis is controversial [14-16]. In view of these data and prominent role of thrombophilia in miscarriages, we examined frequencies of thrombophilic polymorphisms factor V Leiden (FV) G1691A (Leiden), FV H1299R (R2), Prothrombin G20210A, methylene tetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, Factor XIII V34L, PAI-1 4G/5G, EPCR A4600G, EPCR G4678C and we sought to find an association between these polymorphisms and reproductive disorders without a known cause
The research was done on 139 women with reproductive disorders, representing the study group and other 139 healthy females without any personal or family history of venous thrombosis or recurrent pregnancy loss, meaning control group
Summary
Considering the importance of establishing the cause of miscarriage, we investigated the incidence and associated risks of the most common thrombophilic genes polymorphism - FV G1691A, FV H1299A, Prothrombin G20210A, PAI-1, Factor XIII V34L, MTHFR C677T, MTHFR A1298C and EPCR genes, in women with reproductive disorders. Rare allele of 4600A/G (haplotype A3) is associated with increased plasma levels of soluble EPCR (sEPCR), its association with risk of thrombosis is controversial [14-16] In view of these data and prominent role of thrombophilia in miscarriages, we examined frequencies of thrombophilic polymorphisms FV G1691A (Leiden), FV H1299R (R2), Prothrombin G20210A, MTHFR C677T, MTHFR A1298C, Factor XIII V34L, PAI-1 4G/5G, EPCR A4600G, EPCR G4678C and we sought to find an association between these polymorphisms and reproductive disorders without a known cause. All study cases and controls were fully informed about study protocol by main researcher and have consented to participate in study by signing a written consent
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