Effect of polymorphic variants of hereditary thrombophilia genes on the risk of early pregnancy loss for married couples

Abstract

Background Recent data demonstrate that hereditary thrombophilia may amount to 40-50% from all the early pregnancy loss (EPL) cases. However, the discrepancies in the results of different studies have not allowed for a categorical view on the role of hereditary thrombophilia in EPL development. The aim of this study was to assess the genetic risk of EPL in married couples, conditioned by variants of hereditary thrombophilia genes.

Materials 137 married Caucasian couples (137 males and 137 females) from central regions of Ukraine with early pregnancy losses in the anamnesis were involved in the study. The comparison group consisted of 503 (240 males and 263 females) Caucasians enrolled in the 1000 Genomes Project.

Results The study demonstrated a lower risk for men: in the recessive model, genotype 148TT of FGB gene; in the recessive model, genotype 455AA of FGB gene; in the dominant model, genotype 807CT and 807TT of ITGA2 gene. The increased risk for women was observed: in the dominant model, genotype 148CT and 148TT of FGB gene; in the dominant model, genotype 455GA and 455AA of FGB gene; in the dominant model, genotype 1565TC and 1565CC of ITGB3b gene. There were no statistically significant differences between comparison groups for variants G20210A of FII gene and G1691A of FV gene. No statistically significant differences for investigated variants of genes were detected between the groups of men and women.

Conclusion Our results demonstrate that the hereditary thrombophilia genes are associated with the risk of developing of early pregnancy loss for married couple, both for women and men.