Association of plasminogen activator inhibitor-1 (PAI-1) polymorphisms with recurrent pregnancy loss

Recurrent pregnancy loss (RPL) refers to the occurrence of two or more consecutive losses of clinically recognized pregnancies prior to the 20th week of gestation. Several factors play a role in recurrent pregnancy loss (RPL) including thrombophilic conditions, which can be influenced by gene polymorphisms. Plasminogen activator inhibitor-1 (PAI-1) is involved in the fibrinolytic process, and several studies have reported the association between this gene polymorphism and recurrent pregnancy loss (RPL). We studied the PAI-1 4G/5G polymorphism in women with recurrent abortion. 100 patients with recurrent abortions (at least two) were selected as cases and 100 healthy female with two or more normal term deliveries and without a history of abortion were selected as controls. Total genomic DNA was isolated from blood leukocytes. The status of the PAI-1 4G/5G polymorphism was determined by PCR-RFLP. Amplifying the corresponding region of genomic DNA followed by treatment with restriction enzyme Bse RI. Homozygosity for PAI-1 4G polymorphism was seen in 17 cases (17%), in contrast to 5 persons in the control group (5%) (P=0.006) and patients with homozygote 4G mutation were significantly more prone to RPL in contrast to others (OR: 4.63, %95 CI: 1.55‒13.84). ‍ Considering these results, because 4G/4G polymorphism for PAI-1 gene could be a thrombophilic mutation leading to abortion, analysis of this mutation and other suspected factors such as MTHFR and FV Leiden is recommended in patients with RPL.