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Rahmioglu, Nilufer, Mortlock, Sally, Ghiasi, Marzieh, Moller, Peter L, Stefansdottir, Lilja, Galarneau, Genevieve, Turman, Constance, Danning, Rebecca, Law, Matthew H, Sapkota, Yadav et al (show 123 more authors) , Christofidou, Paraskevi, Skarp, Sini, Giri, Ayush, Banasik, Karina, Krassowski, Michal, Lepamets, Maarja, Marciniak, Blazej, Noukas, Margit, Perro, Danielle, Sliz, Eeva, Sobalska-Kwapis, Marta, Thorleifsson, Gudmar, Topbas-Selcuki, Nura F, Vitonis, Allison, Westergaard, David, Arnadottir, Ragnheidur, Burgdorf, Kristoffer S, Campbell, Archie, Cheuk, Cecilia SK, Clementi, Caterina, Cook, James, De Vivo, Immaculata, DiVasta, Amy, Dorien, O, Donoghue, Jacqueline F, Edwards, Todd, Fontanillas, Pierre, Fung, Jenny N, Geirsson, Reynir T, Girling, Jane E, Harkki, Paivi, Harris, Holly R, Healey, Martin, Heikinheimo, Oskari, Holdsworth-Carson, Sarah, Hostettler, Isabel C, Houlden, Henry, Houshdaran, Sahar, Irwin, Juan C, Jarvelin, Marjo-Riitta, Kamatani, Yoichiro, Kennedy, Stephen H, Kepka, Ewa, Kettunen, Johannes, Kubo, Michiaki, Kulig, Bartosz, Kurra, Venla, Laivuori, Hannele, Laufer, Marc R, Lindgren, Cecilia M, MacGregor, Stuart, Mangino, Massimo, Martin, Nicholas G, Matalliotaki, Charoula, Matalliotakis, Michail, Murray, Alison D, Ndungu, Anne, Nezhat, Camran, Olsen, Catherine M, Opoku-Anane, Jessica, Padmanabhan, Sandosh, Paranjpe, Manish, Peters, Maire, Polak, Grzegorz, Porteous, David J, Rabban, Joseph, Rexrode, Kathyrn M, Romanowicz, Hanna, Saare, Merli, Saavalainen, Liisu, Schork, Andrew J, Sen, Sushmita, Shafrir, Amy L, Siewierska-Gorska, Anna, Slomka, Marcin, Smith, Blair H, Smolarz, Beata, Szaflik, Tomasz, Szyllo, Krzysztof, Takahashi, Atsushi, Terry, Kathryn L, Tomassetti, Carla, Treloar, Susan A, Vanhie, Arne, Vincent, Katy, Vo, Kim C, Werring, David J, Zeggini, Eleftheria, Zervou, Maria I, Stefansson, Kari, Nyegaard, Mette, Uimari, Outi, Yurttas-Beim, Piraye, Tung, Joyce Y, Adachi, Sosuke, Buring, Julie E, Ridker, Paul M, D'Hooghe, Thomas, Goulielmos, George N, Hapangama, Dharani K 
ORCID: 0000-0003-0270-0150, Hayward, Caroline, Horne, Andrew W, Low, Siew-Kee, Martikainen, Hannu, Chasman, Daniel I, Rogers, Peter AW, Saunders, Philippa T, Sirota, Marina, Spector, Tim, Strapagiel, Dominik, Whiteman, David C, Giudice, Linda C, Velez-Edwards, Digna R, Kraft, Peter, Salumets, Andres, Nyholt, Dale R, Magi, Reedik, Becker, Christian M, Steinthorsdottir, Valgerdur, Missmer, Stacey A, Montgomery, Grant W, Morris, Andrew P and Zondervan, Krina T
(2023)
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.
NATURE GENETICS, 55 (3).
423-+.
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Abstract
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). We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine. Targeted investigations of genetically regulated mechanisms shared between endometriosis and other pain conditions are needed to aid the development of new treatments and facilitate early symptomatic intervention.
| Item Type: |
Article
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| Uncontrolled Keywords: |
DBDS Genomic Consortium, FinnGen Study, FinnGen Endometriosis Taskforce, Celmatix Research Team, 23andMe Research Team, Humans, Pain, Endometriosis, Genetic Predisposition to Disease, Comorbidity, Female, Genome-Wide Association Study |
| Divisions: |
Faculty of Health and Life Sciences
Faculty of Health and Life Sciences > Institute of Life Courses and Medical Sciences |
| Depositing User: |
Symplectic Admin
|
| Date Deposited: |
17 May 2023 13:54 |
| Last Modified: |
19 Aug 2023 06:58 |
| DOI: |
10.1038/s41588-023-01323-z |
| Open Access URL: |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10042... |
| Related URLs: |
|
| URI: |
https://livrepository.liverpool.ac.uk/id/eprint/3170443 |
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