Genetic Polymorphisms Associated with Impaired Folate Cycle and the Risk of Thrombophilia in Patients with Retrochorial Hematoma in the First Trimester of Pregnancy

The aim of the investigation is to evaluate the role of polymorphisms of folate cycle and hemostatic system in the genesis of chorion detachment.

Materials and Methods. The study involved 43 pregnant women with a detachment of the chorion (group 1) and 43 pregnant women without it (group 2, control group). All patients underwent genotyping of 4 gene polymorphisms of folate cycle in the first trimester: MTHFR (5,10-methylenetetrahydrofolate reductase) C677T; MTHFR A1298C; MTR (vitamin B₁₂-dependent methionine synthase) A2756G; MTRR (methionine synthase reductase) A66G and 8 gene polymorphisms of the hemostatic system: F2 (prothrombin, FII) G20210A; F5 (proaccelerin, labile factor, FV) G1691A (Leiden mutation); F7 (proconvertin, FVII) G10976A; F13 (fibrinase, FXIII) G>T; FGB (fibrinogen β-chain) G455A; ITGA2 (α-2-integrin) C807T; ITGB3 (platelet glycoprotein IIIa) T1565C; PAI-1 (plasminogen activator inhibitor 1) -675 5G/4G.

Results. Heterozygous variant GA of F7 (proconvertin, FVII) G10976A polymprphism and mutant homozygote GG variant of MTRR A66G polymorphism were statistically significant for the risk of chorion detachment. The frequency of heterozygous variant GA of F7 353Gln (G10976A) gene polymorphism in patients with chorion detachment was 51% (22 women) compared to 23.2% (10 women) in the control group, homozygous variant GG of MTRR A66G polymorphism amounted to 44% (19 women) relative to 25.6% (11 women) in the control group.

Conclusion. On the basis of the study it can be concluded that chorion detachment in women being in the first trimester of pregnancy may be associated with the availability of heterozygous variant of (proconvertin, FVII) G10976A polymorphism of gene F7 and mutant homozygous GG variant of MTRR A66G polymorphism, that can occur both separately and in combination.

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Bushtireva I.O., Kuznetsova N.B., Pelogeina E.I. Genetic Polymorphisms Associated with Impaired Folate Cycle and the Risk of Thrombophilia in Patients with Retrochorial Hematoma in the First Trimester of Pregnancy. Sovremennye tehnologii v medicine 2015; 7(3): 84, https://doi.org/10.17691/stm2015.7.3.12