The significance of genetic polymorphisms of factor V Leiden and prothrombin in the preeclamptic Polish women

Abstract

Many studies established that gestational hypertension (GH) and preeclampsia (PE) are multifactorial diseases and disturbances in coagulation cascade have etiological significance. Inherited thrombophilias, like polymorphism of factor V (FV) Leiden and prothrombin (PTM) are considered to be involved in the PE development. The aim of this study was to determine the association between FV Leiden and G20210A of PTM gene polymorphism and GH/PE appearance. The study comprised 235 women: GH (n = 126, mean age 27.5 +/- 6.0 years), mild PE (n = 41, mean age 28.3 +/- 5.7 years), and severe PE (n = 68, mean age 28.5 +/- 5.7 years). The control group consisted of 400 healthy pregnant women (mean age 27.5 +/- 4.7 years). All women included in the study were white Caucasian of Polish origin, and were singleton pregnancies. The G1691A polymorphism of FV and G20210A polymorphism of PTM were detected using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) assays. For PTM G20210A polymorphism overrepresentation of heterozygous GA genotype (7.4 vs. 1.2%, P = 0.02) and of A allele (3.7 vs. 0.6%, P = 0.02) in the group of severe PE have been found. For FV G1691A polymorphism the overrepresentation of genotypes containing at least one mutated allele A (GA and AA) in the group of women with mild (9.7 vs. 3.5%, ns) and severe PE (8.8 vs. 3.5%, ns) was observed. Our results suggest the significant influence of G20210A prothrombin polymorphism and possible influence of G1691A factor V polymorphism in the development of severe preeclampsia.