Journal Article

Apolipoprotein E polymorphisms and spontaneous pregnancy loss in patients with endometriosis

Madeline S. Collazo, Tirtsa Porrata-Doria, Idhaliz Flores and Summer F. Acevedo

in MHR: Basic science of reproductive medicine

Published on behalf of European Society of Human Reproduction and Embryology

Volume 18, issue 7, pages 372-377
Published in print July 2012 | ISSN: 1360-9947
Published online January 2012 | e-ISSN: 1460-2407 | DOI:
Apolipoprotein E polymorphisms and spontaneous pregnancy loss in patients with endometriosis

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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 (ɛ2, ɛ3, ɛ4) 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 χ2 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 ɛ2 carriers and 2-fold less likely to be ɛ4 carriers. Compared with ɛ3 carriers, patients with endometriosis who were ɛ2 carriers and had at least one live birth reported four times the rate of SPL, while ɛ4 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.

Keywords: apolipoprotein E; Puerto Rico; lipoprotein; genetics; endometriosis

Journal Article.  3781 words.  Illustrated.

Subjects: Reproductive Medicine

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