Study of 4G/5G polymorphism of the plasminogen activator inhibitor-1 (PAI-1) gene in women with a history of recurrent pregnancy loss

Abstract

Objectives: To investigate the 4G/5G polymorphism of the PAI-1 gene (encoding plasminogen activator inhibitor-1) in women with a history of recurrent pregnancy loss. Subjects and methods: A cross-sectional case-control study was conducted on 75 women with a history of recurrent pregnancy loss (case group) and 75 healthy women (control group) at the Center for Clinical Genetics and Genomics, Hanoi Medical University Hospital. Results: Regarding PAI-1 gene polymorphism, the 4G/5G and 4G/4G genotypes of the PAI-1 gene were significantly more frequent in the group of women with a history of recurrent pregnancy loss (35 and 10% respectively) compared to the control group (24 and 3%) (p=0.029). Specifically, individuals carrying the 4G allele (including 4G/4G or 4G/5G genotypes) had a 2.28 times higher risk of recurrent pregnancy loss compared to those carrying the 5G/5G genotype (95% CI:1.15-4.52; p=0.017). Conclusions: This study demonstrates a statistically significant association between the 4G/5G polymorphism of the PAI-1 gene and an increased risk of recurrent pregnancy loss. These results are based on age adjusted analyses, underscoring the potential pathogenic role of this polymorphism in Vietnamese women, helping fill a regional data gap and screening, and genetic counselling.