Results
| PMID | 22266326 |
| Gene Name | APOE |
| Condition | Endometriosis |
| Association |
Associated |
| Population size | 611 |
| Population details | 611 (345 patients with endometriosis, 266 controls ) |
| Age | 18–50 yrs |
| Sex | Female |
| Infertility type | Female infertility |
| Other associated phenotypes |
Endometriosis, Endometriosis associated infertility |
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Mol Hum Reprod. 2012 Jul;18(7):372-7. doi: 10.1093/molehr/gas004. Epub 2012 Jan Collazo, Madeline S| Porrata-Doria, Tirtsa| Flores, Idhaliz| Acevedo, Summer F Department of Physiology, Pharmacology, and Toxicology, Ponce School of Medicine and Health Sciences, PO Box 7004, Ponce, PR 00732, Puerto Rico. Endometriosis affects >10% of women during their reproductive years, many of whom report high rates of spontaneous pregnancy loss (SPL). We examined whether gene polymorphisms in apolipoprotein E (APOE), which is involved in lipoprotein metabolism, are associated with endometriosis and/or endometriosis-associated infertility. We conducted a cross-sectional genetic association study of women surgically confirmed to have endometriosis (n = 345) and no surgical evidence of the disease (n = 266). Genotyping of APOE polymorphism (epsilon2, epsilon3, epsilon4) was conducted by polymerase chain reaction-restriction fragment length polymorphism followed by visualization of specific patterns by gel electrophoresis. Statistical significance of differences in genotype and allelic frequencies was assessed using Pearson's chi(2) test and Risk analysis. Overall, we found no association between APOE genotype and diagnosis of endometriosis. However, patients with endometriosis who reported at least one SPL were three times more likely to be epsilon2 carriers and 2-fold less likely to be epsilon4 carriers. Compared with epsilon3 carriers, patients with endometriosis who were epsilon2 carriers and had at least one live birth reported four times the rate of SPL, while epsilon4 carriers were <0.4-fold less likely to report an SPL. Our data suggest that there may be an association between APOE allelic frequency and SPL in patients with endometriosis, which appears to be independent of mechanisms associated with infertility, an intriguing observation that deserves further investigation. Mesh Terms: Abortion, Spontaneous/*genetics| Adult| Apolipoproteins E/*genetics| Cross-Sectional Studies| Endometriosis/*genetics| Female| Gene Frequency/genetics| Genetic Predisposition to Disease/genetics| Genotype| Humans| Polymorphism, Genetic/*genetics |
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