UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

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; ... 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. Green open access

[thumbnail of nihms-1873427.pdf]
Preview
Text
nihms-1873427.pdf - Accepted Version

Download (4MB) | Preview

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
Downloads since deposit
85Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item