Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

Yi Lu, Gabriel Cuellar-Partida, Gabriel Cuéllar-Partida, Jodie N Painter, Dale R Nyholt, Australian Ovarian Cancer Study, International Endogene Consortium (IEC), Andrew P Morris, Peter A Fasching, Alexander Hein, Stefanie Burghaus, Matthias W Beckmann, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Adriaan Vanderstichele, Jennifer A. Doherty, Jennifer Anne Doherty, Mary Anne Rossing, Kristine G Wicklund, Jenny Chang‐Claude, Jenny Chang-Claude, Ursula Eilber, Anja Rudolph, Shan Wang‐Gohrke, Marc T Goodman, Shan Wang-Gohrke, Natalia Bogdanova, Thilo Dörk, Matthias Dürst, Peter Hillemanns, Ingo B Runnebaum, Natalia Antonenkova, Ralf Bützow, Ralf Butzow, Arto Leminen, Heli Nevanlinna, Liisa M Pelttari, Robert P Edwards, Joseph L Kelley, Francesmary Modugno, Kirsten B Moysich, Roberta B Ness, Rikki Cannioto, Estrid Høgdall, Allan Jensen, Graham G Giles, Fiona Bruinsma, Susanne K. Kjær, Michelle A T Hildebrandt, Susanne K Kjaer, Dong Liang, Karen H Lu, Xifeng Wu, Maria Bisogna, Fanny Dao, Douglas A Levine, Daniel W Cramer, Kathryn L Terry, Shelley S Tworoger, Stacey A. Missmer, Line Bjørge, Stacey Missmer, Helga B Salvesen, Line Bjorge, Reidun Kristin Kopperud, Katharina Bischof, Reidun K Kopperud, Katja K H Aben, Lambertus A Kiemeney, Leon F A G Massuger, Angela Brooks‐Wilson, Angela Brooks-Wilson, Sara H Olson, Valerie McGuire, Joseph H Rothstein, Weiva Sieh, Alice S Whittemore, Linda S Cook, Nhu D Le, C Blake Gilks, Jacek Gronwald, Anna Jakubowska, Jan Lubiński, Jan Gawełko, Honglin Song, Jonathan P Tyrer, Nicolas Wentzensen, Louise A. Brinton, Britton Trabert, Louise Brinton, Jolanta Lissowska, John R Mclaughlin, Esther M. John, Steven A Narod, Catherine Phelan, Hoda Anton‐Culver, Argyrios Ziogas, Hoda Anton-Culver, Diana Eccles, Simon A Gayther, Aleksandra Gentry‐Maharaj, Usha Menon, Aleksandra Gentry-Maharaj, Susan J Ramus, Anna H Wu, Agnieszka Dansonka‐Mieszkowska, Agnieszka Dansonka-Mieszkowska, Jolanta Kupryjańczyk, Agnieszka Timorek, Jolanta Kupryjanczyk, Lukasz M. Szafron, Lukasz Szafron, Julie M Cunningham, Brooke L Fridley, Stacey J Winham, Elisa V Bandera, Elizabeth M Poole, Terry K Morgan, Harvey A Risch, Ellen L Goode, Joellen M Schildkraut, Penelope M Webb, Celeste Leigh Pearce, Celeste L Pearce, Andrew Berchuck, Paul D P Pharoah, Grant W Montgomery, Krina T Zondervan, Georgia Chenevix‐Trench, Stuart MacGregor, Georgia Chenevix-Trench
Human molecular genetics · 2015 · vol. 24(20) , pp. 5955–5964 · doi:10.1093/hmg/ddv306 · PMID:26231222 · W1885849841
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Abstract

Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 cases and 7060 controls) and a large ovarian cancer dataset genotyped on the customized Illumina Infinium iSelect (iCOGS) arrays (10 065 cases and 21 663 controls). Previous work has suggested that a large number of genetic variants contribute to endometriosis and ovarian cancer (all histotypes combined) susceptibility. Here, using the iCOGS data, we confirmed polygenic architecture for most histotypes of ovarian cancer. This led us to evaluate if the polygenic effects are shared across diseases. We found evidence for shared genetic risks between endometriosis and all histotypes of ovarian cancer, except for the intestinal mucinous type. Clear cell carcinoma showed the strongest genetic correlation with endometriosis (0.51, 95% CI = 0.18-0.84). Endometrioid and low-grade serous carcinomas had similar correlation coefficients (0.48, 95% CI = 0.07-0.89 and 0.40, 95% CI = 0.05-0.75, respectively). High-grade serous carcinoma, which often arises from the fallopian tubes, showed a weaker genetic correlation with endometriosis (0.25, 95% CI = 0.11-0.39), despite the absence of a known epidemiological association. These results suggest that the epidemiological association between endometriosis and ovarian adenocarcinoma may be attributable to shared genetic susceptibility loci.

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mesh:D004715endometriosis

MeSH descriptors

Endometriosis Ovarian Neoplasms Polymorphism, Single Nucleotide Endometriosis Endometriosis Female Genetic Association Studies Genetic Predisposition to Disease Humans Oligonucleotide Array Sequence Analysis Ovarian Neoplasms Ovarian Neoplasms Risk

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