Prevalence of PAI-1 675 4G/5G and ACE I/D polymorphic variants in women with recurrent pregnancy losses

Keywords: recurrent miscarriage, inherited thrombophilia, genetic polymorphism


Aim. The present study aimed to assess the distribution of inherited risk factors of thrombophilia among women with RPL. To determine the frequency and distribution of alleles and genotypes of polymorphic loci PAI-1 6754G/5G and ACE I/D among women with RPL. Methods. The study was carried out in a group of 97 women (57 controls and 40 women with RPL). Polymerase chain reaction and restriction fragment length polymorphism (RFLP) were used to identify the polymorphisms. Results. The frequency of 4G allele of PAI-1 675 5G/4G locus was more frequent in the group of women with RPL – 67 %, compared to 54 % in the control group. It was established that the presence of the 4G allele increases the risk of RPL by almost 2 times (Р = 0.01). In the group of women with RPL the frequency of carriers of DD genotype and D allele of ACE gene was higher than in the control group (31 % vs. 19 %), but no significant differences were found. The frequency of women with a combination of 4G4G and DD genotypes of the two studied loci was 16.6 % in the group with RPL versus 2.3 % in the control group. It was shown that the presence of homozygotes for two alleles 4G of the PAI-1 gene and D of the ACE gene leads to an 8-fold increased risk of RPL (OR = 8.6, CI: 0.9841-75.154, P = 0.04). Conclusions. Significance of PAI-1 675 4G/5G and ACE I/D polymorphic variants, especially in combination, in the predisposition to RPL was established.


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