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Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

Author

Listed:
  • Yadav Sapkota

    (QIMR Berghofer Medical Research Institute
    St. Jude Children’s Research Hospital)

  • Valgerdur Steinthorsdottir

    (deCODE Genetics/Amgen, 101)

  • Andrew P. Morris

    (University of Liverpool
    Wellcome Trust Centre for Human Genetics, University of Oxford)

  • Amelie Fassbender

    (KULeuven, Organ systems
    Leuven University Fertility Centre, University Hospital Leuven)

  • Nilufer Rahmioglu

    (Wellcome Trust Centre for Human Genetics, University of Oxford)

  • Immaculata De Vivo

    (Harvard T.H. Chan School of Public Health
    Brigham and Women's Hospital and Harvard Medical School)

  • Julie E. Buring

    (Harvard T.H. Chan School of Public Health
    Brigham and Women's Hospital)

  • Futao Zhang

    (Institute for Molecular Bioscience, The University of Queensland)

  • Todd L. Edwards

    (Institute of Medicine and Public Health, Vanderbilt University Medical Center)

  • Sarah Jones

    (Vanderbilt Genetics Institute, Institute of Medicine and Public Health, Vanderbilt University Medical Center)

  • Dorien O

    (KULeuven, Organ systems
    Leuven University Fertility Centre, University Hospital Leuven)

  • Daniëlle Peterse

    (KULeuven, Organ systems
    Leuven University Fertility Centre, University Hospital Leuven)

  • Kathryn M. Rexrode

    (Harvard T.H. Chan School of Public Health
    Brigham and Women's Hospital)

  • Paul M. Ridker

    (Harvard T.H. Chan School of Public Health
    Brigham and Women's Hospital)

  • Andrew J. Schork

    (University of California
    Institute of Biological Psychiatry, Mental Health Centre Sct. Hans, Copenhagen University Hospital)

  • Stuart MacGregor

    (QIMR Berghofer Medical Research Institute)

  • Nicholas G. Martin

    (QIMR Berghofer Medical Research Institute)

  • Christian M. Becker

    (Endometriosis CaRe Centre, Nuffield Dept of Obstetrics & Gynaecology, University of Oxford, John Radcliffe Hospital)

  • Sosuke Adachi

    (Niigata University Graduate School of Medical and Dental Sciences)

  • Kosuke Yoshihara

    (Niigata University Graduate School of Medical and Dental Sciences)

  • Takayuki Enomoto

    (Niigata University Graduate School of Medical and Dental Sciences)

  • Atsushi Takahashi

    (Center for Integrative Medical Sciences, RIKEN)

  • Yoichiro Kamatani

    (Center for Integrative Medical Sciences, RIKEN)

  • Koichi Matsuda

    (Institute of Medical Sciences, The University of Tokyo)

  • Michiaki Kubo

    (Center for Integrative Medical Sciences, RIKEN)

  • Gudmar Thorleifsson

    (deCODE Genetics/Amgen, 101)

  • Reynir T. Geirsson

    (Landspitali University Hospital
    Faculty of Medicine, School of Health Sciences, University of Iceland,)

  • Unnur Thorsteinsdottir

    (deCODE Genetics/Amgen, 101
    Faculty of Medicine, School of Health Sciences, University of Iceland,)

  • Leanne M. Wallace

    (QIMR Berghofer Medical Research Institute
    Institute for Molecular Bioscience, The University of Queensland)

  • Jian Yang

    (Institute for Molecular Bioscience, The University of Queensland)

  • Digna R. Velez Edwards

    (Vanderbilt Genetics Institute, Vanderbilt Epidemiology Center, Institute of Medicine and Public Health, Vanderbilt University Medical Center)

  • Mette Nyegaard

    (Aarhus University
    iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research)

  • Siew-Kee Low

    (Center for Integrative Medical Sciences, RIKEN)

  • Krina T. Zondervan

    (Wellcome Trust Centre for Human Genetics, University of Oxford
    Endometriosis CaRe Centre, Nuffield Dept of Obstetrics & Gynaecology, University of Oxford, John Radcliffe Hospital)

  • Stacey A. Missmer

    (Harvard T.H. Chan School of Public Health
    Brigham and Women's Hospital and Harvard Medical School)

  • Thomas D'Hooghe

    (KULeuven, Organ systems
    Leuven University Fertility Centre, University Hospital Leuven
    Global Medical Affairs Fertility, Research and Development, Merck KGaA)

  • Grant W. Montgomery

    (QIMR Berghofer Medical Research Institute
    Institute for Molecular Bioscience, The University of Queensland)

  • Daniel I. Chasman

    (Harvard T.H. Chan School of Public Health
    Brigham and Women's Hospital)

  • Kari Stefansson

    (deCODE Genetics/Amgen, 101
    Faculty of Medicine, School of Health Sciences, University of Iceland,)

  • Joyce Y. Tung

    (23andMe, Inc.)

  • Dale R. Nyholt

    (QIMR Berghofer Medical Research Institute
    Institute of Health and Biomedical Innovation, Queensland University of Technology)

Abstract

Endometriosis is a heritable hormone-dependent gynecological disorder, associated with severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely unknown. Here we perform a meta-analysis of 11 genome-wide association case-control data sets, totalling 17,045 endometriosis cases and 191,596 controls. In addition to replicating previously reported loci, we identify five novel loci significantly associated with endometriosis risk (P

Suggested Citation

  • Yadav Sapkota & Valgerdur Steinthorsdottir & Andrew P. Morris & Amelie Fassbender & Nilufer Rahmioglu & Immaculata De Vivo & Julie E. Buring & Futao Zhang & Todd L. Edwards & Sarah Jones & Dorien O & , 2017. "Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism," Nature Communications, Nature, vol. 8(1), pages 1-12, August.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_ncomms15539
    DOI: 10.1038/ncomms15539
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