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Rahmioglu, N.* ; Mortlock, S.* ; Ghiasi, M.* ; Møller, P.L.* ; Stefansdottir, L.* ; Galarneau, G.* ; Turman, C.* ; Danning, R.* ; Law, M.H.* ; Sapkota, Y.* ; Christofidou, P.* ; Skarp, S.* ; Giri, A.* ; Banasik, K.* ; Krassowski, M.* ; Lepamets, M.* ; Marciniak, B.* ; Nõukas, M.* ; Perro, D.* ; Sliz, E.* ; Sobalska-Kwapis, M.* ; Thorleifsson, G.* ; Topbas-Selcuki, N.F.* ; Vitonis, A.* ; Westergaard, D.* ; Arnadottir, R.* ; Burgdorf, K.S.* ; Campbell, A.* ; Cheuk, C.S.K.* ; Clementi, C.* ; Cook, J.* ; de Vivo, I.* ; DiVasta, A.* ; Dorien, O.* ; Donoghue, J.F.* ; Edwards, T.* ; Fontanillas, P.* ; Fung, J.N.* ; Geirsson, R.T.* ; Girling, J.E.* ; Harkki, P.* ; Harris, H.R.* ; Healey, M.* ; Heikinheimo, O.* ; Holdsworth-Carson, S.* ; Hostettler, I.C.* ; Houlden, H.* ; Houshdaran, S.* ; Irwin, J.C.* ; Jarvelin, M.R.* ; Kamatani, Y.* ; Kennedy, S.H.* ; Kepka, E.* ; Kettunen, J.* ; Kubo, M.* ; Kulig, B.* ; Kurra, V.* ; Laivuori, H.* ; Laufer, M.R.* ; Lindgren, C.M.* ; MacGregor, S.* ; Mangino, M.* ; Martin, N.G.* ; Matalliotaki, C.* ; Matalliotakis, M.* ; Murray, A.D.* ; Ndungu, A.* ; Nezhat, C.* ; Olsen, C.M.* ; Opoku-Anane, J.* ; Padmanabhan, S.* ; Paranjpe, M.* ; Peters, M.* ; Polak, G.* ; Porteous, D.J.* ; Rabban, J.* ; Rexrode, K.M.* ; Romanowicz, H.* ; Saare, M.* ; Saavalainen, L.* ; Schork, A.J.* ; Sen, S.* ; Shafrir, A.L.* ; Siewierska-Górska, A.* ; Słomka, M.* ; Smith, B.H.* ; Smolarz, B.* ; Szaflik, T.* ; Szyłło, K.* ; Takahashi, A.* ; Terry, K.L.* ; Tomassetti, C.* ; Treloar, S.A.* ; Vanhie, A.* ; Vincent, K.* ; Vo, K.C.* ; Werring, D.J.* ; Zeggini, E. ; Zervou, M.I.* ; Adachi, S.* ; Buring, J.E.* ; Ridker, P.M.* ; D'Hooghe, T.* ; Goulielmos, G.N.* ; Hapangama, D.K.* ; Hayward, C.* ; Horne, A.W.* ; Low, S.K.* ; Martikainen, H.* ; Chasman, D.I.* ; Rogers, P.A.W.* ; Saunders, P.T.* ; Sirota, M.* ; Spector, T.* ; Strapagiel, D.* ; Tung, J.Y.* ; Whiteman, D.C.* ; Giudice, L.C.* ; Velez-Edwards, D.R.* ; Uimari, O.* ; Kraft, P.* ; Salumets, A.* ; Nyholt, D.R.* ; Mägi, R.* ; Stefansson, K.* ; Becker, C.M.* ; Yurttas-Beim, P.* ; Steinthorsdottir, V.* ; Nyegaard, M.* ; Missmer, S.A.* ; Montgomery, G.W.* ; Morris, A.P.* ; Zondervan, K.T.*

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

Nat. Genet. 55, 423-436 (2023)
Postprint DOI PMC
Open Access Green
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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Genome-wide Association; Chronic Pelvic Pain; Risk; Dysmenorrhea; Metaanalysis; Expression; Tissue; Women; Classification; Transcription
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 55, Issue: 3, Pages: 423-436 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Translational Genomics (ITG)
Grants NICHD
National Institutes of Health
Eunice Kennedy Shriver National Institute of Child Health and Human Development
J. Willard and Alice S. Marriott Foundation
Wellcome Trust Case-Control Consortium
Cerylid Biosciences (Melbourne)
Cooperative Research Centre for Discovery of Genes for Common Human Diseases (CRC)
National Health and Medical Research Council (NHMRC) of Australia
Chief Scientist Office of the Scottish Government Health Directorates
Medical Research Council UK
Wellcome Trust
Scottish Funding Council
Bill and Melinda Gates Foundation
King's College London
National Institute for Health Research (NIHR)
European Union
Chronic Disease Research Foundation (CDRF)
MRC University Unit Programme Grant
Wellbeing of Women
Gates Foundation
NIH
NIHR Oxford Biomedical Research Centre, Oxford
Li Ka Shing Foundation
Novo Nordisk Foundation
Nezhat Family Foundation
Sigrid Juselius Foundation
NIH NICHD
European Regional Development Fund
Polish POIG grant
MSCA-RISE-2020 project TRENDO
Enter-prise Estonia
European Commission
Estonian Research Council
Versus Arthritis
Australian National Health and Medical Research Council
Australian Government Medical Research Future Fund Research Grant
ARC
NHMRC
EU
Wellbeing of Women UK
Academy of Finland