Genetic Polymorphism in the Fibrinolytic System and Endometriosis

Mohamed A. Bedaiwy, Falcone T, Tommaso Falcone, Edward J. Mascha, Casper RF, Robert F. Casper
Obstetrics and gynecology · 2006 · vol. 108(1) , pp. 162–168 · doi:10.1097/01.aog.0000220517.53892.0a · PMID:16816071 · W2075432395
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The 4G allele of the PAI-1 gene, associated with hypofibrinolysis, was significantly more prevalent in women with endometriosis, suggesting a role in lesion initiation.

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This study investigated whether genetic variations in the plasminogen activator inhibitor-1 gene influence the development of endometriosis by testing the hypothesis that hypofibrinolysis allows endometrial fragments to persist. Researchers analyzed PAI-1 promoter genotypes in 75 women with laparoscopically confirmed endometriosis and 43 controls, finding that the 4G allele was significantly more prevalent in the patient group. The results indicated that individuals with 4G/4G or 4G/5G genotypes had substantially higher odds of having endometriosis compared to those with the 5G/5G genotype associated with normal fibrinolysis. This paper is centrally about endometriosis — specifically examining how genetic polymorphisms affecting the fibrinolytic system may contribute to disease pathogenesis by facilitating the implantation of retrograde menstrual debris.

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Abstract

OBJECTIVE: Although most women experience retrograde menses during their reproductive life, endometriosis develops only in a small percentage. We hypothesized that persistence of a fibrin matrix in peritoneal pockets, as a result of hypofibrinolysis, could allow menstrually deposited endometrial fragments to initiate endometriosis. Fibrinolysis is modulated by several factors, and polymorphisms in the plasminogen activator inhibitor-1 (PAI-1) gene are considered to be one of the important determinants. The objective of this study was to evaluate PAI-1 genotypes in a group of women with or without endometriosis. METHODS: In 118 women (75 with laparoscopically confirmed endometriosis and 43 controls), genomic DNA was extracted from blood and the PAI-1 promoter genotype was determined by polymerase chain reaction amplification of DNA using specific primers for the 4G or 5G allele followed by gel electrophoresis. A portion of the polymerase chain reaction product was purified and sequenced to confirm the gel electrophoresis results. RESULTS: Endometriosis was more likely in patients with 4G/5G (odds ratio 38; 95% confidence interval [CI] 6-229) or 4G/4G (odds ratio 441; 95% CI 53-3,694) compared with 5G/5G PAI-1 genotype. Fifty-two of 75 women with endometriosis (69 %, 95% CI 58-79%) had the 4G/4G genotype compared with only 5 of 43 (12%; 95% CI 4-25%) controls. In contrast, the 5G/5G genotype associated with normal fibrinolysis was found in 2 of 75 (3%; 95% CI 0-9%) women with endometriosis compared with 24 of 43 (56%; 95% CI 40-71%) controls. CONCLUSION: Hypofibrinolysis, associated with the 4G allele of the PAI-1 gene, was found significantly more often in women with endometriosis compared with controls. Persistence of fibrin matrix could support the initiation of endometriotic lesions in the peritoneal cavity, explaining why some women with retrograde menstruation develop endometriosis while others do not. LEVEL OF EVIDENCE: II-2.
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Objective

Although most women experience retrograde menses during their reproductive life, endometriosis develops only in a small percentage. We hypothesized that persistence of a fibrin matrix in peritoneal pockets, as a result of hypofibrinolysis, could allow menstrually deposited endometrial fragments to initiate endometriosis. Fibrinolysis is modulated by several factors, and polymorphisms in the plasminogen activator inhibitor-1 (PAI-1) gene are considered to be one of the important determinants. The objective of this study was to evaluate PAI-1 genotypes in a group of women with or without endometriosis.

Methods

In 118 women (75 with laparoscopically confirmed endometriosis and 43 controls), genomic DNA was extracted from blood and the PAI-1 promoter genotype was determined by polymerase chain reaction amplification of DNA using specific primers for the 4G or 5G allele followed by gel electrophoresis. A portion of the polymerase chain reaction product was purified and sequenced to confirm the gel electrophoresis results.

Results

Endometriosis was more likely in patients with 4G/5G (odds ratio 38; 95% confidence interval [CI] 6–229) or 4G/4G (odds ratio 441; 95% CI 53–3,694) compared with 5G/5G PAI-1 genotype. Fifty-two of 75 women with endometriosis (69 %, 95% CI 58–79%) had the 4G/4G genotype compared with only 5 of 43 (12%; 95% CI 4–25%) controls. In contrast, the 5G/5G genotype associated with normal fibrinolysis was found in 2 of 75 (3%; 95% CI 0–9%) women with endometriosis compared with 24 of 43 (56%; 95% CI 40–71%) controls.

Conclusion

Hypofibrinolysis, associated with the 4G allele of the PAI-1 gene, was found significantly more often in women with endometriosis compared with controls. Persistence of fibrin matrix could support the initiation of endometriotic lesions in the peritoneal cavity, explaining why some women with retrograde menstruation develop endometriosis while others do not. LEVEL OF EVIDENCE: II-2

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Fibrin Fibrinolysis Plasminogen Activator Inhibitor 1 Polymorphism, Genetic Adult Alleles Endometriosis Endometriosis Female Fibrin Fibrinolysis Genetic Variation Genotype Humans Infertility Infertility Multivariate Analysis Pain Pain

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