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

Research output: Contribution to journal › Journal article › Research › peer-review

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The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. / Rahmioglu, Nilufer; Mortlock, Sally; Ghiasi, Marzieh; Møller, Peter L.; Stefansdottir, Lilja; Galarneau, Geneviève; Turman, Constance; Danning, Rebecca; Law, Matthew H.; Sapkota, Yadav; Christofidou, Paraskevi; Skarp, Sini; Giri, Ayush; Banasik, Karina; Krassowski, Michal; Lepamets, Maarja; Marciniak, Błażej; Nõukas, 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 S.K.; 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; Schork, Andrew J.; Nyegaard, Mette; DBDS Genomic Consortium; FinnGen Study; FinnGen Endometriosis Taskforce; Celmatix Research Team; 23andMe Research Team.

In: Nature Genetics, Vol. 55, No. 3, 2023, p. 423-436.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Rahmioglu, N, Mortlock, S, Ghiasi, M, Møller, PL, Stefansdottir, L, Galarneau, G, Turman, C, Danning, R, Law, MH, 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, NF, Vitonis, A, Westergaard, D, Arnadottir, R, Burgdorf, KS, Campbell, A, Cheuk, CSK, Clementi, C, Cook, J, De Vivo, I, DiVasta, A, Dorien, O, Donoghue, JF, Edwards, T, Fontanillas, P, Fung, JN, Geirsson, RT, Girling, JE, Harkki, P, Harris, HR, Healey, M, Heikinheimo, O, Holdsworth-Carson, S, Hostettler, IC, Houlden, H, Houshdaran, S, Schork, AJ, Nyegaard, M, DBDS Genomic Consortium, FinnGen Study, FinnGen Endometriosis Taskforce, Celmatix Research Team & 23andMe Research Team 2023, 'The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions', Nature Genetics, vol. 55, no. 3, pp. 423-436. https://doi.org/10.1038/s41588-023-01323-z

APA

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., ... 23andMe Research Team (2023). The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nature Genetics, 55(3), 423-436. https://doi.org/10.1038/s41588-023-01323-z

Vancouver

Rahmioglu N, Mortlock S, Ghiasi M, Møller PL, Stefansdottir L, Galarneau G et al. The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nature Genetics. 2023;55(3):423-436. https://doi.org/10.1038/s41588-023-01323-z

Author

Rahmioglu, Nilufer ; Mortlock, Sally ; Ghiasi, Marzieh ; Møller, Peter L. ; Stefansdottir, Lilja ; Galarneau, Geneviève ; Turman, Constance ; Danning, Rebecca ; Law, Matthew H. ; Sapkota, Yadav ; Christofidou, Paraskevi ; Skarp, Sini ; Giri, Ayush ; Banasik, Karina ; Krassowski, Michal ; Lepamets, Maarja ; Marciniak, Błażej ; Nõukas, 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 S.K. ; 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 ; Schork, Andrew J. ; Nyegaard, Mette ; DBDS Genomic Consortium ; FinnGen Study ; FinnGen Endometriosis Taskforce ; Celmatix Research Team ; 23andMe Research Team. / The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. In: Nature Genetics. 2023 ; Vol. 55, No. 3. pp. 423-436.

Bibtex

@article{d83411a0c16f4d9b83dd0ec68c5694f4,
title = "The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions",
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.",
author = "Nilufer Rahmioglu and Sally Mortlock and Marzieh Ghiasi and M{\o}ller, {Peter L.} and Lilja Stefansdottir and Genevi{\`e}ve Galarneau and Constance Turman and Rebecca Danning and Law, {Matthew H.} and Yadav Sapkota and Paraskevi Christofidou and Sini Skarp and Ayush Giri and Karina Banasik and Michal Krassowski and Maarja Lepamets and B{\l}a{\.z}ej Marciniak and Margit N{\~o}ukas and Danielle Perro and Eeva Sliz and Marta Sobalska-Kwapis and Gudmar Thorleifsson and Topbas-Selcuki, {Nura F.} and Allison Vitonis and David Westergaard and Ragnheidur Arnadottir and Burgdorf, {Kristoffer S.} and Archie Campbell and Cheuk, {Cecilia S.K.} and Caterina Clementi and James Cook and {De Vivo}, Immaculata and Amy DiVasta and O. Dorien and Donoghue, {Jacqueline F.} and Todd Edwards and Pierre Fontanillas and Fung, {Jenny N.} and Geirsson, {Reynir T.} and Girling, {Jane E.} and Paivi Harkki and Harris, {Holly R.} and Martin Healey and Oskari Heikinheimo and Sarah Holdsworth-Carson and Hostettler, {Isabel C.} and Henry Houlden and Sahar Houshdaran and Schork, {Andrew J.} and Mette Nyegaard and {DBDS Genomic Consortium} and {FinnGen Study} and {FinnGen Endometriosis Taskforce} and {Celmatix Research Team} and {23andMe Research Team}",
note = "Publisher Copyright: {\textcopyright} 2023. The Author(s), under exclusive licence to Springer Nature America, Inc.",
year = "2023",
doi = "10.1038/s41588-023-01323-z",
language = "English",
volume = "55",
pages = "423--436",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "3",

}

RIS

TY - JOUR

T1 - The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

AU - Rahmioglu, Nilufer

AU - Mortlock, Sally

AU - Ghiasi, Marzieh

AU - Møller, Peter L.

AU - Stefansdottir, Lilja

AU - Galarneau, Geneviève

AU - Turman, Constance

AU - Danning, Rebecca

AU - Law, Matthew H.

AU - Sapkota, Yadav

AU - Christofidou, Paraskevi

AU - Skarp, Sini

AU - Giri, Ayush

AU - Banasik, Karina

AU - Krassowski, Michal

AU - Lepamets, Maarja

AU - Marciniak, Błażej

AU - Nõukas, Margit

AU - Perro, Danielle

AU - Sliz, Eeva

AU - Sobalska-Kwapis, Marta

AU - Thorleifsson, Gudmar

AU - Topbas-Selcuki, Nura F.

AU - Vitonis, Allison

AU - Westergaard, David

AU - Arnadottir, Ragnheidur

AU - Burgdorf, Kristoffer S.

AU - Campbell, Archie

AU - Cheuk, Cecilia S.K.

AU - Clementi, Caterina

AU - Cook, James

AU - De Vivo, Immaculata

AU - DiVasta, Amy

AU - Dorien, O.

AU - Donoghue, Jacqueline F.

AU - Edwards, Todd

AU - Fontanillas, Pierre

AU - Fung, Jenny N.

AU - Geirsson, Reynir T.

AU - Girling, Jane E.

AU - Harkki, Paivi

AU - Harris, Holly R.

AU - Healey, Martin

AU - Heikinheimo, Oskari

AU - Holdsworth-Carson, Sarah

AU - Hostettler, Isabel C.

AU - Houlden, Henry

AU - Houshdaran, Sahar

AU - Schork, Andrew J.

AU - Nyegaard, Mette

AU - DBDS Genomic Consortium

AU - FinnGen Study

AU - FinnGen Endometriosis Taskforce

AU - Celmatix Research Team

AU - 23andMe Research Team

N1 - Publisher Copyright: © 2023. The Author(s), under exclusive licence to Springer Nature America, Inc.

PY - 2023

Y1 - 2023

N2 - 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.

AB - 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.

U2 - 10.1038/s41588-023-01323-z

DO - 10.1038/s41588-023-01323-z

M3 - Journal article

C2 - 36914876

AN - SCOPUS:85150092928

VL - 55

SP - 423

EP - 436

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 3

ER -

ID: 341018992