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

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, Daniëlle Peterse, Kathryn M. Rexrode, Paul M. Ridker, Andrew J. Schork, Stuart MacGregor, Nicholas G. Martin, Christian M. Becker, Sosuke Adachi, Kosuke Yoshihara, Takayuki Enomoto, Atsushi Takahashi, Yoichiro Kamatani, Koichi Matsuda, Michiaki Kubo, Gudmar Thorleifsson, Reynir T. Geirsson, Unnur Thorsteinsdottir, Leanne M. Wallace, Jian Yang, Digna R. Velez Edwards, Mette Nyegaard, Siew-Kee Low, Krina T. Zondervan, Stacey A. Missmer, Thomas D'Hooghe, Grant W. Montgomery (), Daniel I. Chasman, Kari Stefansson, Joyce Y. Tung and Dale R. Nyholt ()
Additional contact information
Yadav Sapkota: QIMR Berghofer Medical Research Institute
Valgerdur Steinthorsdottir: deCODE Genetics/Amgen, 101
Andrew P. Morris: University of Liverpool
Amelie Fassbender: KULeuven, Organ systems
Nilufer Rahmioglu: Wellcome Trust Centre for Human Genetics, University of Oxford
Immaculata De Vivo: Harvard T.H. Chan School of Public Health
Julie E. Buring: Harvard T.H. Chan School of Public Health
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
Daniëlle Peterse: KULeuven, Organ systems
Kathryn M. Rexrode: Harvard T.H. Chan School of Public Health
Paul M. Ridker: Harvard T.H. Chan School of Public Health
Andrew J. Schork: University of California
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
Unnur Thorsteinsdottir: deCODE Genetics/Amgen, 101
Leanne M. Wallace: QIMR Berghofer Medical Research Institute
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
Siew-Kee Low: Center for Integrative Medical Sciences, RIKEN
Krina T. Zondervan: Wellcome Trust Centre for Human Genetics, University of Oxford
Stacey A. Missmer: Harvard T.H. Chan School of Public Health
Thomas D'Hooghe: KULeuven, Organ systems
Grant W. Montgomery: QIMR Berghofer Medical Research Institute
Daniel I. Chasman: Harvard T.H. Chan School of Public Health
Kari Stefansson: deCODE Genetics/Amgen, 101
Joyce Y. Tung: 23andMe, Inc.
Dale R. Nyholt: QIMR Berghofer Medical Research Institute

Nature Communications, 2017, vol. 8, issue 1, 1-12

Abstract: 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

Date: 2017
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DOI: 10.1038/ncomms15539

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