Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

Yi Lu, Lu Y, Gabriel Cuellar-Partida, Gabriel Cuéllar-Partida, Painter JN, Jodie N. Painter, Dale R. Nyholt, Nyholt DR, Australian Ovarian Cancer Study, Andrew P. Morris, International Endogene Consortium (IEC), Morris AP, Peter A. Fasching, Fasching PA, Alexander Hein, Matthias W. Beckmann, Stefanie Burghaus, Beckmann MW, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Van Nieuwenhuysen E, Vergote I, Jennifer A. Doherty, Adriaan Vanderstichele, Mary Anne Rossing, Doherty JA, Jennifer Anne Doherty, Rossing MA, Kristine G. Wicklund, Wicklund KG, Jenny Chang‐Claude, Ursula Eilber, Jenny Chang-Claude, Chang-Claude J, Eilber U, Anja Rudolph, Rudolph A, Shan Wang‐Gohrke, Shan Wang-Gohrke, Wang-Gohrke S, Marc T. Goodman, Natalia Bogdanova, Matthias Dürst, Thilo Dörk, Dürst M, Ingo B. Runnebaum, Peter Hillemanns, Runnebaum IB, Natalia Antonenkova, Ralf Bützow, Antonenkova N, Ralf Butzow, Arto Leminen, Butzow R, Heli Nevanlinna, Leminen A, Nevanlinna H, Robert P. Edwards, Liisa M. Pelttari, Joseph L. Kelley, Edwards RP, Kelley JL, Francesmary Modugno, Modugno F, Kirsten B. Moysich, Moysich KB, Roberta B. Ness, Rikki Cannioto, Ness RB, Cannioto R, Estrid Høgdall, Allan Jensen, Graham G. Giles, Fiona Bruinsma, Susanne K Kjaer, Michelle A T Hildebrandt, Susanne K. Kjær, Hildebrandt MA, Karen H. Lu, Dong Liang, Xifeng Wu, Lu KH, Wu X, Maria Bisogna, Bisogna M, Fanny Dao, Dao F, Daniel W. Cramer, Douglas A. Levine, Cramer DW, Kathryn L. Terry, Stacey A. Missmer, Shelley S. Tworoger, Line Bjørge, Stacey Missmer, Missmer S, Bjorge L, Line Bjorge, Helga B. Salvesen, Reidun Kristin Kopperud, Salvesen HB, Kopperud RK, Katharina Bischof, Reidun K Kopperud, Bischof K, Katja K H Aben, Lambertus A. Kiemeney, Leon F A G Massuger, Massuger LF, Angela Brooks‐Wilson, Brooks-Wilson A, Angela Brooks-Wilson, Valerie McGuire, Sara H. Olson, McGuire V, Joseph H. Rothstein, Rothstein JH, Weiva Sieh, Alice S. Whittemore, Whittemore AS, Linda S. Cook, Nhu D. Le, Cook LS, C. Blake Gilks, Le ND, Gilks CB, Jacek Gronwald, Gronwald J, Anna Jakubowska, Jan Lubiński, Honglin Song, Jan Gawełko, Jonathan P. Tyrer, Song H, Nicolas Wentzensen, Tyrer JP, Wentzensen N, Louise A. Brinton, Brinton L, Louise Brinton, Britton Trabert, Esther M. John, John R. Mclaughlin, Jolanta Lissowska, McLaughlin JR, Steven A. Narod, Narod SA, Catherine Phelan, Phelan C, Hoda Anton‐Culver, Argyrios Ziogas, Hoda Anton-Culver, Anton-Culver H, Ziogas A, Diana Eccles, Simon A. Gayther, Aleksandra Gentry‐Maharaj, Gayther SA, Aleksandra Gentry-Maharaj, Gentry-Maharaj A, Usha Menon, Susan J. Ramus, Anna H. Wu, Wu AH, Agnieszka Dansonka-Mieszkowska, Agnieszka Dansonka‐Mieszkowska, Jolanta Kupryjańczyk, Jolanta Kupryjanczyk, Agnieszka Timorek, Timorek A, Lukasz M. Szafron, Julie M. Cunningham, Lukasz Szafron, Cunningham JM, Brooke L. Fridley, Fridley BL, Stacey J. Winham, Elisa V. Bandera, Elizabeth M. Poole, Bandera EV, Terry K. Morgan, Poole EM, Harvey A. Risch, Morgan TK, Ellen L. Goode, Risch HA, Joellen M. Schildkraut, Goode EL, Schildkraut JM, Penelope M. Webb, Celeste Leigh Pearce, Pearce CL, Celeste L Pearce, Andrew Berchuck, Paul D P Pharoah, Berchuck A, Pharoah PD, Grant W. Montgomery, Krina T. Zondervan, Montgomery GW, Zondervan Kt, Georgia Chenevix-Trench, Stuart MacGregor, Georgia Chenevix‐Trench, MacGregor S
Human molecular genetics · 2015 · vol. 24(20) , pp. 5955–5964 · doi:10.1093/hmg/ddv306 · PMID:26231222 · PMC4581608 · W1885849841
article OA: bronze CC0 ⤵ 56 in-corpus citations
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This study found shared genetic risks between endometriosis and most ovarian cancer histotypes, except mucinous, with clear cell carcinoma showing the strongest genetic correlation.

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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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Condition tags

endometriosis

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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