The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

DBDS Genomic Consortium, FinnGen study, FinnGen Endometriosis Taskforce, Celmatix Research Team, 23andMe Research Team, 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 KrassowskiMaarja 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, Venla Kurra, Hannele Laivuori

Research output: Contribution to journalArticleScientificpeer-review


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.

Original languageEnglish
Pages (from-to)423-436
Number of pages14
JournalNature Genetics
Issue number3
Publication statusPublished - Mar 2023
Publication typeA1 Journal article-refereed

Publication forum classification

  • Publication forum level 3

ASJC Scopus subject areas

  • Genetics


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