Rahmioglu, Nilufer;
Mortlock, Sally;
Ghiasi, Marzieh;
Møller, Peter L;
Stefansdottir, Lilja;
Galarneau, Geneviève;
Turman, Constance;
... Zondervan, Krina T; + view all
(2023)
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.
Nature Genetics
, 55
(3)
pp. 423-436.
10.1038/s41588-023-01323-z.
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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.
| Type: | Article |
|---|---|
| Title: | The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41588-023-01323-z |
| Publisher version: | https://doi.org/10.1038/s41588-023-01323-z |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. - This research was funded in part by The Wellcome Trust (216767; 104036; 084766; 212904; 076113 and 085475). For the purpose of Open Access, the author has applied a CC BY public copyright licence to any Author Accepted Manuscript (AAM) version arising from this submission. |
| Keywords: | Comorbidity, Endometriosis, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Pain |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Brain Repair and Rehabilitation UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10168216 |
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