Evidence map›Paper›PMID 36914876›Full record

SynthesisNature genetics2023

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

Nilufer Rahmioglu, Sally Mortlock, Marzieh Ghiasi, Peter L Møller, Lilja Stefansdottir, Geneviève Galarneau, Constance Turman, Rebecca Danning, Matthew H Law, Yadav Sapkota and 128 more

Abstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 178 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
178citing papers in PubMed, 8 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

178 citing papers in PubMed, 8 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Pooled it
  7. Pooled it
  8. Pooled it
  9. The importance of gene polymorphism in familial inheritance of endometriosis.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026
    Article
  10. Review
  11. Article
  12. Article
  13. Identification of potent inhibitors of JUN N-terminal kinases for treatment of endometriosis and associated pain.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  14. Review
  15. Observational
  16. Review
  17. Review
  18. Predictive markers of endometriosis: a future perspective.Archives of gynecology and obstetrics · 2026
    Review
  19. Review
  20. Natural Products Targeting Oxidative Stress-Inflammation Crosstalk in Endometriosis.American journal of reproductive immunology (New York, N.Y. : 1989) · 2026
    Review

118 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

138 authors.

Nilufer RahmiogluWellcome Centre for Human Genetics, University of Oxford, Oxford, UK. nilufer.rahmioglu@well.ox.ac.uk.ORCID http://orcid.org/0000-0002-5169-8571
Sally MortlockThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Marzieh GhiasiDepartment of Epidemiology, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA.
Peter L MøllerDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-1405-5136
Lilja StefansdottirdeCODE genetics/Amgen, Reykjavik, Iceland.
Geneviève GalarneauCelmatix Inc., New York, NY, USA.
Constance TurmanDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Rebecca DanningDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Matthew H LawStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0002-4303-8821
Yadav SapkotaDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID http://orcid.org/0000-0001-5943-9454
Paraskevi ChristofidouDepartment of Twin Research and Genetic Epidemiology, St. Thomas' Hospital, Kings College London, London, UK.
Sini SkarpNorthern Finland Birth Cohorts, Faculty of Medicine, University of Oulu, Oulu, Finland.ORCID http://orcid.org/0000-0003-2336-4221
Ayush GiriDepartment of Obstetrics and Gynecology, Institute of Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-7786-4670
Karina BanasikNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-2489-2499
Michal KrassowskiWellcome Centre for Human Genetics, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-9638-7785
Maarja LepametsEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-4619-3229
Błażej MarciniakBiobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Łódź, Poland.ORCID http://orcid.org/0000-0003-1571-1473
Margit NõukasEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Danielle PerroOxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Eeva SlizComputational Medicine and Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.ORCID http://orcid.org/0000-0002-2316-058X
Marta Sobalska-KwapisBiobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Łódź, Poland.
Gudmar ThorleifssondeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-4623-9087
Nura F Topbas-SelcukiOxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-5749-9987
Allison VitonisBoston Center for Endometriosis, Boston Children's Hospital and Brigham and Women's Hospital, Boston, MA, USA.
David WestergaardNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0003-0128-8432
Ragnheidur ArnadottirDepartment of Obstetrics and Gynecology, Landspitali University Hospital, Reykjavik, Iceland.
Kristoffer S BurgdorfDepartment of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark.
Archie CampbellCentre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK.ORCID http://orcid.org/0000-0003-0198-5078
Cecilia S K CheukWellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Caterina ClementiCelmatix Inc., New York, NY, USA.
James CookDepartment of Biostatistics, University of Liverpool, Liverpool, UK.
Immaculata De VivoDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Amy DiVastaBoston Center for Endometriosis, Boston Children's Hospital and Brigham and Women's Hospital, Boston, MA, USA.
O DorienDepartment of Obstetrics and Gynaecology, Leuven University Fertility Centre, University Hospital Leuven, Leuven, Belgium.
Jacqueline F DonoghueUniversity of Melbourne Department of Obstetrics and Gynaecology, Royal Women's Hospital, Melbourne, Victoria, Australia.
Todd EdwardsDepartment of Obstetrics and Gynecology, Institute of Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0003-4318-6119
Pierre Fontanillas23andMe, Inc., Sunnyvale, CA, USA.
Jenny N FungThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
Reynir T GeirssonDepartment of Obstetrics and Gynecology, Landspitali University Hospital, Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-5419-0909
Jane E GirlingUniversity of Melbourne Department of Obstetrics and Gynaecology, Royal Women's Hospital, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0002-8154-2068
Paivi HarkkiDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Holly R HarrisProgram in Epidemiology, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Martin HealeyUniversity of Melbourne Department of Obstetrics and Gynaecology, Royal Women's Hospital, Melbourne, Victoria, Australia.
Oskari HeikinheimoDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.ORCID http://orcid.org/0000-0002-8671-130X
Sarah Holdsworth-CarsonUniversity of Melbourne Department of Obstetrics and Gynaecology, Royal Women's Hospital, Melbourne, Victoria, Australia.
Isabel C HostettlerStroke Research Centre, University College London, Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0002-9004-2540
Henry HouldenNeurogenetics Laboratory, The National Hospital of Neurology and Neurosurgery, London, UK.ORCID http://orcid.org/0000-0002-2866-7777
Sahar HoushdaranCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0003-3163-5298
Juan C IrwinCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.
Marjo-Riitta JarvelinDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID http://orcid.org/0000-0002-2149-0630
Yoichiro KamataniCenter for Integrative Medical Sciences, RIKEN, Yokohama, Japan.ORCID http://orcid.org/0000-0001-8748-5597
Stephen H KennedyOxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0003-0135-9317
Ewa KepkaBiobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Łódź, Poland.
Johannes KettunenComputational Medicine and Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.ORCID http://orcid.org/0000-0002-3345-491X
Michiaki KuboCenter for Integrative Medical Sciences, RIKEN, Yokohama, Japan.ORCID http://orcid.org/0000-0002-0095-2322
Bartosz KuligDepartment of Operative Gynecology and Oncological Gynecology, Polish Mother's Memorial Hospital-Research Institute, Łódź, Poland.
Venla KurraDepartment of Obstetrics and Gynecology, Tampere University Hospital, Tampere, Finland.
Hannele LaivuoriDepartment of Obstetrics and Gynecology, Tampere University Hospital, Tampere, Finland.ORCID http://orcid.org/0000-0003-3212-7826
Marc R LauferBoston Center for Endometriosis, Boston Children's Hospital and Brigham and Women's Hospital, Boston, MA, USA.
Cecilia M LindgrenWellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Stuart MacGregorStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Massimo ManginoDepartment of Twin Research and Genetic Epidemiology, St. Thomas' Hospital, Kings College London, London, UK.ORCID http://orcid.org/0000-0002-2167-7470
Nicholas G MartinGenetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0003-4069-8020
Charoula MatalliotakiThird Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Michail MatalliotakisThird Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Alison D MurrayThe Institute of Medical Sciences, Aberdeen Biomedical Imaging Centre, University of Aberdeen, Aberdeen, UK.ORCID http://orcid.org/0000-0003-4915-4847
Anne NdunguWellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Camran NezhatCenter For Special Minimally Invasive and Robotic Surgery, Camran Nezhat Institute, Palo Alto, CA, USA.
Catherine M OlsenDepartment of Population Health, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0003-4483-1888
Jessica Opoku-AnaneCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.
Sandosh PadmanabhanInstitute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK.
Manish ParanjpeBakar Computational Health Sciences Institute, University of California, San Francisco, CA, USA.
Maire PetersInstitute of Clinical Medicine, Department of Obstetrics and Gynecology, University of Tartu, Tartu, Estonia.
Grzegorz Polak1st Department of Oncological Gynecology and Gynecology, Medical University of Lublin, Lublin, Poland.ORCID http://orcid.org/0000-0002-4436-2893
David J PorteousCentre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK.ORCID http://orcid.org/0000-0003-1249-6106
Joseph RabbanDepartment of Pathology, University of California, San Francisco, CA, USA.
Kathyrn M RexrodeDivision of Women's Health, Brigham and Women's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3387-8429
Hanna RomanowiczLaboratory of Cancer Genetics, Department of Clinical Pathomorphology, Polish Mother's Memorial Hospital-Research Institute, Łódź, Poland.
Merli SaareInstitute of Clinical Medicine, Department of Obstetrics and Gynecology, University of Tartu, Tartu, Estonia.
Liisu SaavalainenDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Andrew J SchorkInstitute of Biological Psychiatry, Mental Health Center, Sct. Hans, Mental Health Services, Copenhagen, Denmark.
Sushmita SenCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.
Amy L ShafrirBoston Center for Endometriosis, Boston Children's Hospital and Brigham and Women's Hospital, Boston, MA, USA.
Anna Siewierska-GórskaComputational Medicine and Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.
Marcin SłomkaComputational Medicine and Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.ORCID http://orcid.org/0000-0002-7906-5549
Blair H SmithDivision of Population Health and Genomics, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK.ORCID http://orcid.org/0000-0002-5362-9430
Beata SmolarzLaboratory of Cancer Genetics, Department of Clinical Pathomorphology, Polish Mother's Memorial Hospital-Research Institute, Łódź, Poland.
Tomasz SzaflikDepartment of Operative Gynecology and Oncological Gynecology, Polish Mother's Memorial Hospital-Research Institute, Łódź, Poland.
Krzysztof SzyłłoDepartment of Operative Gynecology and Oncological Gynecology, Polish Mother's Memorial Hospital-Research Institute, Łódź, Poland.
Atsushi TakahashiCenter for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
Kathryn L TerryDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Carla TomassettiDepartment of Obstetrics and Gynaecology, Leuven University Fertility Centre, University Hospital Leuven, Leuven, Belgium.
Susan A TreloarGenetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0002-4217-7408
Arne VanhieDepartment of Obstetrics and Gynaecology, Leuven University Fertility Centre, University Hospital Leuven, Leuven, Belgium.
Katy VincentOxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0001-9249-2492
Kim C VoCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.
David J WerringStroke Research Centre, University College London, Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0003-2074-1861
Eleftheria ZegginiInstitute of Translational Genomics, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.ORCID http://orcid.org/0000-0003-4238-659X
Maria I ZervouSection of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of Crete, Heraklion, Greece.
DBDS Genomic Consortium
FinnGen Study
FinnGen Endometriosis Taskforce
Celmatix Research Team
23andMe Research Team
Sosuke AdachiDepartment of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Julie E BuringDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Paul M RidkerDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Thomas D'HoogheKULeuven (University of Leuven), Department of Development and Regeneration, Organ systems, Leuven, Belgium.
George N GoulielmosSection of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of Crete, Heraklion, Greece.
Dharani K HapangamaDepartment of Women's and Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.ORCID http://orcid.org/0000-0003-0270-0150
Caroline HaywardMRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK.ORCID http://orcid.org/0000-0002-9405-9550
Andrew W HorneMRC Centre for Reproductive Health, University of Edinburgh Institute for Regeneration and Repair, Edinburgh, UK.
Siew-Kee LowCancer Precision Medicine Center, Japanese Foundation for Cancer Research, Tokyo, Japan.ORCID http://orcid.org/0000-0003-2386-0698
Hannu MartikainenDepartment of Obstetrics and Gynecology, Oulu University Hospital, Oulu, Finland.
Daniel I ChasmanDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3357-0862
Peter A W RogersUniversity of Melbourne Department of Obstetrics and Gynaecology, Royal Women's Hospital, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0002-7399-8997
Philippa T SaundersCentre for Inflammation Research, University of Edinburgh, Institute for Regeneration and Repair, Edinburgh, UK.
Marina SirotaBakar Computational Health Sciences Institute, University of California, San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-7246-6083
Tim SpectorDepartment of Twin Research and Genetic Epidemiology, St. Thomas' Hospital, Kings College London, London, UK.ORCID http://orcid.org/0000-0002-9795-0365
Dominik StrapagielBiobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Łódź, Poland.
Joyce Y Tung23andMe, Inc., Sunnyvale, CA, USA.
David C WhitemanDepartment of Population Health, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0003-2563-9559
Linda C GiudiceCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.
Digna R Velez-EdwardsDepartment of Obstetrics and Gynecology, Institute of Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Outi UimariDepartment of Obstetrics and Gynecology, Oulu University Hospital, Oulu, Finland.ORCID http://orcid.org/0000-0002-8954-2900
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0002-4472-8103
Andres SalumetsEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-1251-8160
Dale R NyholtGenetic Epidemiology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0001-7159-3040
Reedik MägiEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-2964-6011
Kari StefanssondeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-1676-864X
Christian M BeckerOxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-9870-9581
Piraye Yurttas-BeimCelmatix Inc., New York, NY, USA.
Valgerdur SteinthorsdottirdeCODE genetics/Amgen, Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-1846-6274
Mette NyegaardDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-4973-8543
Stacey A MissmerDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Grant W MontgomeryThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0002-4140-8139
Andrew P MorrisCentre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, The University of Manchester, Manchester, UK.ORCID http://orcid.org/0000-0002-6805-6014
Krina T ZondervanWellcome Centre for Human Genetics, University of Oxford, Oxford, UK. krina.zondervan@wrh.ox.ac.uk.ORCID http://orcid.org/0000-0002-0275-9905

Funding

Long Term Multidisciplinary Study of Cancer in Women: The Nurses Health StudyUM1CA186107 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIASSEN, A. HEATHER, STAMPFER, MEIR · 2014 to 2023
$22.3M
Life Course Cancer Epidemiology Cohort in WomenUM1CA176726 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI WILLETT, WALTER C. · 2013 to 2017
$15.7M
The Massachusetts General Hospital Harvard Center for Reproductive MedicineP50HD104224 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI SEMINARA, STEPHANIE BETH · 2021 to 2025
$7.8M
What is Endometriosis? Deep Phenotyping to Advance Diagnosis and TreatmentR01HD094842 · NICHD · MICHIGAN STATE UNIVERSITY · PI FAZLEABAS, ASGERALLY T., MISSMER, STACEY ANN · 2018 to 2022
$4.2M
Infertility History and Chronic Disease ProfileR01HD096033 · NICHD · MICHIGAN STATE UNIVERSITY · PI RISINGER, JOHN IAN · 2019 to 2023
$3.4M
Integrative Analysis of Genomic, Epigenomic and Phenotypic Data for Disease Stratification of EndometriosisR01HD089511 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GIUDICE, LINDA C, MISSMER, STACEY ANN · 2016 to 2020
$3.0M
Harnessing biomarker and phenotypic diversity among adolescents and women with endometriosis to advance personalized medicine for diagnosis and pain remediationR21HD096358 · NICHD · MICHIGAN STATE UNIVERSITY · PI MISSMER, STACEY ANN, SHAFRIR, AMY LEE · 2019 to 2020
$499k
Medical Research Council MC_UU_00007/10Medical Research Council MR/K011480/1NCI NIH HHS UM1 CA176726NCI NIH HHS UM1 CA186107NICHD NIH HHS P50 HD104224NICHD NIH HHS R01 HD089511NICHD NIH HHS R01 HD094842NICHD NIH HHS R01 HD096033NICHD NIH HHS R21 HD096358Wellcome Trust 084766
6 · The paper itself

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.

Indexed as

EndometriosisComorbidityFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPain

Identifiers

PMID36914876
PMCPMC10042257

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.