Plasminogen activator inhibitor-1 4G/5G polymorphism and susceptibility to endometriosis in the Italian population

OBJECTIVES: Some controversy exists for the potential association of the plasminogen activator inhibitor-1 (PAI-1) gene polymorphism 4G/5G and susceptibility to endometriosis. To clarify this issue, we have examined the prevalence of this polymorphism in a case-control study in the Italian population. STUDY DESIGN: The PAI-1 4G/5G polymorphism was evaluated in n=368 reproductive year aged Caucasian women who underwent gynaecological laparoscopy for chronic pelvic pain, infertility, ovarian cysts and myomas. A second group of controls included n=329 normal subjects. RESULTS: The 697 women enrolled were divided as follows: the endometriosis group (n=204), the gynaecological control group (n=164) and the general population control group (n=329). No statistical significant differences emerged between endometriosis patients and gynaecological controls with regard to the allele frequencies and co-dominant and dominant models of genotype distribution. A borderline statistical difference was only observed for the recessive model of inheritance in which, contrary to previous findings, the PAI-1 4G/4G genotype seems to be less linked to the disease development. CONCLUSION: The findings reported herein do not support the previously reported data indicating a greater susceptibility to endometriosis in patients harbouring the PAI-1 4G/5G and 4G/4G genotypes and exclude a significant role of polymorphism in endometriosis development.