{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T02:01:12Z","timestamp":1788573672588,"version":"build-2803163510"},"reference-count":127,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2023,5,9]],"date-time":"2023-05-09T00:00:00Z","timestamp":1683590400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"publisher","award":["GNT1177194"],"award-info":[{"award-number":["GNT1177194"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Medical Research Future Fund Research","award":["MRF1199785"],"award-info":[{"award-number":["MRF1199785"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>BACKGROUND<\/jats:title>\n                  <jats:p>Endometriosis remains a poorly understood disease, despite its high prevalence and debilitating symptoms. The overlap in symptoms and the increased risk of multiple other traits in women with endometriosis is becoming increasingly apparent through epidemiological data. Genetic studies offer a method of investigating these comorbid relationships through the assessment of causal relationships with Mendelian randomization (MR), as well as identification of shared genetic variants and genes involved across traits. This has the capacity to identify risk factors for endometriosis as well as provide insight into the aetiology of disease.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>OBJECTIVE AND RATIONALE<\/jats:title>\n                  <jats:p>We aim to review the current literature assessing the relationship between endometriosis and other traits using genomic data, primarily through the methods of MR and genetic correlation. We critically examine the limitations of these studies in accordance with the assumptions of the utilized methods.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>SEARCH METHODS<\/jats:title>\n                  <jats:p>The PubMed database was used to search for peer-reviewed original research articles using the terms \u2018Mendelian randomization endometriosis\u2019 and \u2018\u201cgenetic correlation\u201d endometriosis\u2019. Additionally, a Google Scholar search using the terms \u2018\u201cendometriosis\u201d \u201cmendelian randomization\u201d \u201cgenetic correlation\u201d\u2019 was performed. All relevant publications (n\u2009=\u200921) published up until 7 October 2022 were included in this review. Upon compilation of all traits with published MR and\/or genetic correlation with endometriosis, additional epidemiological and genetic information on their comorbidity with endometriosis was sourced by searching for the trait in conjunction with \u2018endometriosis\u2019 on Google Scholar.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>OUTCOMES<\/jats:title>\n                  <jats:p>The association between endometriosis and multiple pain, gynaecological, cancer, inflammatory, gastrointestinal, psychological, and anthropometric traits has been assessed using MR analysis and genetic correlation analysis. Genetic correlation analyses provide evidence that genetic factors contributing to endometriosis are shared with multiple traits: migraine, uterine fibroids, subtypes of ovarian cancer, melanoma, asthma, gastro-oesophageal reflux disease, gastritis\/duodenitis, and depression, suggesting the involvement of multiple biological mechanisms in endometriosis. The assessment of causality with MR has revealed several potential causes (e.g. depression) and outcomes (e.g. ovarian cancer and uterine fibroids) of a genetic predisposition to endometriosis; however, interpretation of these results requires consideration of potential violations of the MR assumptions.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>WIDER IMPLICATIONS<\/jats:title>\n                  <jats:p>Genomic studies have demonstrated that there is a molecular basis for the co-occurrence of endometriosis with other traits. Dissection of this overlap has identified shared genes and pathways, which provide insight into the biology of endometriosis. Thoughtful MR studies are necessary to ascertain causality of the comorbidities of endometriosis. Given the significant diagnostic delay of endometriosis of 7\u201311\u2009years, determining risk factors is necessary to aid diagnosis and reduce the disease burden. Identification of traits for which endometriosis is a risk factor is important for holistic treatment and counselling of the patient. The use of genomic data to disentangle the overlap of endometriosis with other traits has provided insights into the aetiology of endometriosis.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/humupd\/dmad009","type":"journal-article","created":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T03:02:11Z","timestamp":1683774131000},"page":"655-674","source":"Crossref","is-referenced-by-count":57,"title":["Insights from Mendelian randomization and genetic correlation analyses into the relationship between endometriosis and its comorbidities"],"prefix":"10.1093","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4244-8842","authenticated-orcid":false,"given":"Isabelle M","family":"McGrath","sequence":"first","affiliation":[{"name":"The Institute for Molecular Bioscience, The University of Queensland , Brisbane, QLD, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4140-8139","authenticated-orcid":false,"given":"Grant W","family":"Montgomery","sequence":"additional","affiliation":[{"name":"The Institute for Molecular Bioscience, The University of Queensland , Brisbane, QLD, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2327-9465","authenticated-orcid":false,"given":"Sally","family":"Mortlock","sequence":"additional","affiliation":[{"name":"The Institute for Molecular Bioscience, The University of Queensland , Brisbane, QLD, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,5,9]]},"reference":[{"key":"2023090508442686300_dmad009-B1","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1093\/humrep\/deab254","article-title":"Genetic overlap analysis of endometriosis and asthma identifies shared loci implicating sex hormones and thyroid signalling pathways","volume":"37","author":"Adewuyi","year":"2022","journal-title":"Hum Reprod"},{"key":"2023090508442686300_dmad009-B2","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1007\/s00439-020-02223-6","article-title":"Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality","volume":"140","author":"Adewuyi","year":"2021","journal-title":"Hum Genet"},{"key":"2023090508442686300_dmad009-B3","doi-asserted-by":"crossref","first-page":"268","DOI":"10.3390\/genes11030268","article-title":"Shared molecular genetic mechanisms underlie endometriosis and migraine comorbidity","volume":"11","author":"Adewuyi","year":"2020","journal-title":"Genes (Basel)"},{"key":"2023090508442686300_dmad009-B4","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1212\/01.wnl.0000196481.57994.09","article-title":"Oral contraceptives and increased headache prevalence","volume":"66","author":"Aegidius","year":"2006","journal-title":"Neurology"},{"key":"2023090508442686300_dmad009-B5","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/s10072-017-2906-9","article-title":"Treating migraine with contraceptives","volume":"38","author":"Allais","year":"2017","journal-title":"Neurol Sci"},{"key":"2023090508442686300_dmad009-B6","volume-title":"Cancer in Australia 2021","author":"Australian Institute of Health and Welfare","year":"2021"},{"key":"2023090508442686300_dmad009-B7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/srep32894","article-title":"Fast set-based association analysis using summary data from GWAS identifies novel gene loci for human complex traits","volume":"6","author":"Bakshi","year":"2016","journal-title":"Sci Rep"},{"key":"2023090508442686300_dmad009-B8","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1111\/j.1471-0528.2008.01878.x","article-title":"Can symptomatology help in the diagnosis of endometriosis? 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