Nilufer Rahmioglu, Sally Mortlock, Marzieh Ghiasi, Peter L Møller, Lilja Stefansdottir, Geneviève Galarneau, Constance Turman, Rebecca Danning, Matthew H Law, Yadav Sapkota, Paraskevi Christofidou, Sini Skarp, Ayush Giri, Karina Banasik, Michal Krassowski, Maarja Lepamets, Błażej Marciniak, Margit Nõukas, Danielle Perro, Eeva Sliz, Marta Sobalska-Kwapis, Gudmar Thorleifsson, Nura F Topbas-Selcuki, Allison Vitonis, David Westergaard, Ragnheidur Arnadottir, Kristoffer S Burgdorf, Archie Campbell, Cecilia S K Cheuk, Caterina Clementi, James Cook, Immaculata De Vivo, Amy DiVasta, O Dorien, Jacqueline F Donoghue, Todd Edwards, Pierre Fontanillas, Jenny N Fung, Reynir T Geirsson, Jane E Girling, Paivi Harkki, Holly R Harris, Martin Healey, Oskari Heikinheimo, Sarah Holdsworth-Carson, Isabel C Hostettler, Henry Houlden, Sahar Houshdaran, Juan C Irwin, Marjo-Riitta Jarvelin, Yoichiro Kamatani, Stephen H Kennedy, Ewa Kepka, Johannes Kettunen, Michiaki Kubo, Bartosz Kulig, Venla Kurra, Hannele Laivuori, Marc R Laufer, Cecilia M Lindgren, Stuart MacGregor, Massimo Mangino, Nicholas G Martin, Charoula Matalliotaki, Michail Matalliotakis, Alison D Murray, Anne Ndungu, Camran Nezhat, Catherine M Olsen, Jessica Opoku-Anane, Sandosh Padmanabhan, Manish Paranjpe, Maire Peters, Grzegorz Polak, David J Porteous, Joseph Rabban, Kathyrn M Rexrode, Hanna Romanowicz, Merli Saare, Liisu Saavalainen, Andrew J Schork, Sushmita Sen, Amy L Shafrir, Anna Siewierska-Górska, Marcin Słomka, Blair H Smith, Beata Smolarz, Tomasz Szaflik, Krzysztof Szyłło, Atsushi Takahashi, Kathryn L Terry, Carla Tomassetti, Susan A Treloar, Arne Vanhie, Katy Vincent, Kim C Vo, David J Werring, Eleftheria Zeggini, Maria I Zervou, Sosuke Adachi, Julie E Buring, Paul M Ridker, Thomas D'Hooghe, George N Goulielmos, Dharani K Hapangama, Caroline Hayward, Andrew W Horne, Siew-Kee Low, Hannu Martikainen, Daniel I Chasman, Peter A W Rogers, Philippa T Saunders, Marina Sirota, Tim Spector, Dominik Strapagiel, Joyce Y Tung, David C Whiteman, Linda C Giudice, Digna R Velez-Edwards, Outi Uimari, Peter Kraft, Andres Salumets, Dale R Nyholt, Reedik Mägi, Kari Stefansson, Christian M Becker, Piraye Yurttas-Beim, Valgerdur Steinthorsdottir, Mette Nyegaard, Stacey A Missmer, Grant W Montgomery, Andrew P Morris, Krina T Zondervan
Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. Effect sizes were largest for stage 3/4 disease, driven by ovarian endometriosis. Identified signals explained up to 5.01% of disease variance and regulated expression or methylation of genes in endometrium and blood, many of which were associated with pain perception/maintenance (SRP14/BMF, GDAP1, MLLT10, BSN and NGF)...
March 2023: Nature Genetics