Plasminogen activator inhibitor-1 4G/5G polymorphism in infertile women with and without endometriosis

Objective. To evaluate PAI-1 genotypes in a group of infertile women with or without endometriosis and control subjects. Design. Case control study. Setting. Human Reproduction Center of Medicina do ABC Faculty. Population. One hundred and forty infertile women with endometriosis, 64 women with idiopathic infertility and 148 fertile women as control subjects. Methods. The PAI-1 4G/5G polymorphism was identified by restriction fragment length polymorphism polymerase chain reaction. Main outcome measures. Genotype distribution and allele frequency of the 4G/5G polymorphism of the PAI-1 gene. Results. The frequencies of genotypes 4G/4G, 4G/5G and 5G/5G of the PAI-1 gene in the infertile women with endometriosis were 38.6, 37.1 and 24.3%, respectively, and in the control group 24.3, 33.8 and 41.9%, respectively (p=0.003). When the infertile women with endometriosis were divided according to their endometriosis stage, genotypes 4G/4G, 4G/5G and 5G/5G were identified, respectively, in 36.7, 32.9 and 30.4% of the patients with minimal/mild endometriosis (p=0.102) and in 41.0, 42.6 and 16.4% of the patients with moderate/severe endometriosis (p=0.001); in the women with idiopathic infertility, these genotypes were found at a frequency of 29.7, 34.3 and 36%, respectively (p=0.637). Conclusion. The data suggest that, in Brazilian women, the PAI-1 4G/5G polymorphism may be associated with a risk of endometriosis-associated infertility.