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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; Danning, Rebecca; Law, Matthew H; Sapkota, Yadav; Christofidou, Paraskevi; Skarp, Sini; Giri, Ayush; Banasik, Karina; Krassowski, Michal; Lepamets, Maarja; Marciniak, Blazej; Nõukas, Margit; Perro, Danielle; Sliz, Eeva; Sobalska-Kwapis, Marta; Thorleifsson, Gudmar; Topbas-Selcuki, Nura F; Vitonis, Allison; Westergaard, David; Arnadottir, Ragnheidur; Burgdorf, Kristoffer S; Campbell, Archie; Cheuk, Cecilia S K; Clementi, Caterina; Cook, James; De Vivo, Immaculata; DiVasta, Amy; Dorien, O; Donoghue, Jacqueline F; Edwards, Todd; Fontanillas, Pierre; Fung, Jenny N; Geirsson, Reynir T; Girling, Jane E; Harkki, Paivi; Harris, Holly R; Healey, Martin; Heikinheimo, Oskari; Holdsworth-Carson, Sarah; Hostettler, Isabel C; Houlden, Henry; Houshdaran, Sahar; Irwin, Juan C; Jarvelin, Marjo-Riitta.
Afiliação
  • Rahmioglu N; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK. nilufer.rahmioglu@well.ox.ac.uk.
  • Mortlock S; Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK. nilufer.rahmioglu@well.ox.ac.uk.
  • Ghiasi M; The Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
  • Møller PL; Department of Epidemiology, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA.
  • Stefansdottir L; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
  • Galarneau G; deCODE genetics/Amgen, Reykjavik, Iceland.
  • Turman C; Celmatix Inc., New York, NY, USA.
  • Danning R; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
  • Law MH; Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USA.
  • Sapkota Y; Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Christofidou P; School of Biomedical Sciences, Faculty of Health, and Institute of health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove, Queensland, Australia.
  • Skarp S; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA.
  • Giri A; Department of Twin Research and Genetic Epidemiology, St. Thomas' Hospital, Kings College London, London, UK.
  • Banasik K; Northern Finland Birth Cohorts, Faculty of Medicine, University of Oulu, Oulu, Finland.
  • Krassowski M; Department of Obstetrics and Gynecology, Institute of Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Lepamets M; Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Marciniak B; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Nõukas M; Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Perro D; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
  • Sliz E; Biobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Lódz, Poland.
  • Sobalska-Kwapis M; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
  • Thorleifsson G; Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Topbas-Selcuki NF; Computational Medicine and Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.
  • Vitonis A; Biocenter Oulu, University of Oulu, Oulu, Finland.
  • Westergaard D; Biobank Lab, Department of Oncobiology and Epigenetics, Faculty of Biology and Environmental Protection, University of Lodz, Lódz, Poland.
  • Arnadottir R; deCODE genetics/Amgen, Reykjavik, Iceland.
  • Burgdorf KS; Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Campbell A; Boston Center for Endometriosis, Boston Children's Hospital and Brigham and Women's Hospital, Boston, MA, USA.
  • Cheuk CSK; Obstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
  • Clementi C; Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Cook J; Department of Obstetrics and Gynecology, Landspitali University Hospital, Reykjavik, Iceland.
  • De Vivo I; Department of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark.
  • DiVasta A; Centre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK.
  • Dorien O; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Donoghue JF; Oxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Edwards T; Celmatix Inc., New York, NY, USA.
  • Fontanillas P; Department of Biostatistics, University of Liverpool, Liverpool, UK.
  • Fung JN; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
  • Geirsson RT; Boston Center for Endometriosis, Boston Children's Hospital and Brigham and Women's Hospital, Boston, MA, USA.
  • Girling JE; Division of Adolescent and Young Adult Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
  • Harkki P; Department of Obstetrics and Gynaecology, Leuven University Fertility Centre, University Hospital Leuven, Leuven, Belgium.
  • Harris HR; KULeuven (University of Leuven), Department of Development and Regeneration, Organ systems, Leuven, Belgium.
  • Healey M; University of Melbourne Department of Obstetrics and Gynaecology, Royal Women's Hospital, Melbourne, Victoria, Australia.
  • Heikinheimo O; Department of Obstetrics and Gynecology, Institute of Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Holdsworth-Carson S; 23andMe, Inc., Sunnyvale, CA, USA.
  • Hostettler IC; The Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
  • Houlden H; Department of Obstetrics and Gynecology, Landspitali University Hospital, Reykjavik, Iceland.
  • Houshdaran S; University of Melbourne Department of Obstetrics and Gynaecology, Royal Women's Hospital, Melbourne, Victoria, Australia.
  • Irwin JC; Department of Anatomy, School of Biomedical Sciences, University of Otago, Otago, New Zealand.
  • Jarvelin MR; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Nat Genet ; 55(3): 423-436, 2023 03.
Article em En | MEDLINE | ID: mdl-36914876
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Endometriose Tipo de estudo: Systematic_reviews Limite: Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Endometriose Tipo de estudo: Systematic_reviews Limite: Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article