Results
| PMID | 18423526 |
| Gene Name | SERPINE1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | PAI-14G/5G polymorphism, |
| Population size | 389 |
| Population details | 389 women (170 patients with endometriosis and 219 controls) |
| Sex | Female |
| Other associated phenotypes |
Endometriosis |
|
Thromb Res. 2008;122(6):854-60. doi: 10.1016/j.thromres.2008.02.010. Epub 2008 Ramon, Luis A| Gilabert-Estelles, Juan| Cosin, Raul| Gilabert, Juan| Espana, Francisco| Castello, Remedios| Chirivella, Melitina| Romeu, Alberto| Estelles, Amparo Research Center, Hospital Universitario La Fe, Valencia, Spain. INTRODUCTION: Endometriosis is a benign gynecologic disease with a high prevalence. It is a multifactorial and polygenic entity in which the fibrinolytic system may be implicated. The objective of this study was to evaluate the plasminogen activator inhibitor-1 (PAI-1) 4G/5G polymorphism in a group of women with and without endometriosis and to analyze the influence of this polymorphism in PAI-1 expression in endometrial tissue and peritoneal fluid. MATERIAL AND METHODS: In 389 women (170 patients with endometriosis and 219 controls) PAI-1 4G/5G polymorphism was determined by PCR amplification using allele-specific primers. Quantitative real-time RT-PCR assay was used to quantify PAI-1 mRNA and PAI-1 antigen (ag) levels were quantified by ELISA. RESULTS: The genotype and allele frequencies of PAI-1 4G/5G polymorphism did not differ significantly between patients and controls. Control women with the 4G/4G genotype had higher endometrial PAI-1ag (P=0.026) and mRNA (P=0.014) levels than those with the 5G/5G genotype. Control carrying the 4G/4G genotype tended to have higher peritoneal fluid PAI-1ag levels than those carrying the 5G/5G genotype. Moreover, PAI-1ag levels in peritoneal fluid were higher in patients than in controls (P=0.003). CONCLUSIONS: The PAI-1 genotype distribution was similar in patients and controls. PAI-1 levels in endometrial tissue and peritoneal fluid seem to be associated with PAI-1 4G/5G polymorphism in controls. The increased PAI-1ag levels observed in peritoneal fluid from patients could contribute to increase the peritoneal adhesions observed in endometriosis. Mesh Terms: Adolescent| Adult| Ascitic Fluid/chemistry| Endometriosis/etiology/*genetics/metabolism| Endometrium/chemistry| Female| Humans| Middle Aged| Plasminogen Activator Inhibitor 1/analysis/*genetics| *Polymorphism, Genetic| RNA, Messenger/*analysis|D |
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