Results
| PMID | 21306344 |
| Gene Name | SERPINE1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | 4G/5G polymorphism of the PAI-1 gene |
| Population size | 352 |
| Population details | 352 (140 infertile women with endometriosis, 64 women with idiopathic infertility and 148 fertile women as control subjects) |
| Sex | Female |
| Infertility type | Female infertility |
| Other associated phenotypes |
Endometriosis, Female infertility |
|
Acta Obstet Gynecol Scand. 2011 May;90(5):473-7. doi: Goncalves-Filho, Rubens P| Brandes, Ariel| Christofolini, Denise M| Lerner, Tatiana G| Bianco, Bianca| Barbosa, Caio P Division of Gynecological Pathology and Human Reproduction, Department of Gynecology and Obstetrics, Faculty of Medicine of ABC, Santo Andre, Sao Paulo, Brazil. 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. Mesh Terms: Adult| Brazil| Case-Control Studies| Endometriosis/*complications/*genetics| Female| Gene Frequency| Genotype| Humans| Infertility/complications/etiology/*genetics| Odds Ratio| Plasminogen Activator Inhibitor 1/*genetics| Polymerase Chain React |
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