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

DBDS Genomic Consortium, FinnGen , FinnGen Endometriosis Taskforce, The Celmatix Research Team , The 23andMe Research Team, Andrew P. Morris, et al

Research output: Contribution to journalArticlepeer-review

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 III/IV 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, 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. Multi-trait 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
JournalNature Genetics
Publication statusAccepted/In press - 27 Jan 2023

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