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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism
Nature Communications, Volume 8, Article 15539, Year 2017
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Description
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<5 × 10-8), implicating genes involved in sex steroid hormone pathways (FN1, CCDC170, ESR1, SYNE1 and FSHB). Conditional analysis identified five secondary association signals, including two at the ESR1 locus, resulting in 19 independent single nucleotide polymorphisms (SNPs) robustly associated with endometriosis, which together explain up to 5.19% of variance in endometriosis. These results highlight novel variants in or near specific genes with important roles in sex steroid hormone signalling and function, and offer unique opportunities for more targeted functional research efforts. © 2017 The Author(s).
Authors & Co-Authors
Sapkota, Yadav A.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
United States, Memphis
St. Jude Children's Research Hospital
Steinthórsdóttir, Valgerdur
Iceland, Reykjavik
Decode Genetics
Morris, Andrew Paul
United Kingdom, Liverpool
University of Liverpool
United Kingdom, Oxford
University of Oxford
Fassbender, Amelie
Belgium, Leuven
Ku Leuven
Belgium, Leuven
Ku Leuven– University Hospital Leuven
De Vivo, Immaculata
United States, Boston
Harvard T.h. Chan School of Public Health
United States, Boston
Brigham and Women's Hospital
Buring, Julie E.
United States, Boston
Harvard T.h. Chan School of Public Health
United States, Boston
Brigham and Women's Hospital
Zhang, Futao
Australia, Brisbane
The University of Queensland
Edwards, Todd L.
United States, Nashville
Vanderbilt University Medical Center
Jones, Sarah H.
United States, Nashville
Vanderbilt University
Dorien, O. F.
Belgium, Leuven
Ku Leuven
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Peterse, Daniëlle P.
Belgium, Leuven
Ku Leuven
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Rexrode, Kathryn M.
United States, Boston
Harvard T.h. Chan School of Public Health
United States, Boston
Brigham and Women's Hospital
Ridker, Paul M.
United States, Boston
Harvard T.h. Chan School of Public Health
United States, Boston
Brigham and Women's Hospital
Schork, Andrew Joseph
United States, La Jolla
Department of Cognitive Science
Denmark, Copenhagen
Copenhagen University Hospital
MacGregor, Stuart
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Martin, Nicholas G.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Becker, Christian Malte
United Kingdom, Oxford
John Radcliffe Hospital
Enomoto, Takayuki E.
Japan, Niigata
Niigata University, Graduate School of Medical and Dental Science
Takahashi, Atsushi
Japan, Wako
Riken
Kamatani, Yoichiro
Japan, Wako
Riken
Matsuda, Koichi
Japan, Tokyo
The University of Tokyo
Kubo, Michiaki
Japan, Wako
Riken
Thorleifsson, Gudmar
Iceland, Reykjavik
Decode Genetics
Thorsteinsdóttir, Unnur Arna
Iceland, Reykjavik
Decode Genetics
Iceland, Reykjavik
Haskoli Islands
Werge, Thomas M.
Denmark, Copenhagen
H. Lundbeck A/s
Denmark, Copenhagen
Københavns Universitet
Thompson, Wesley Kurt
Denmark, Copenhagen
H. Lundbeck A/s
United States, La Jolla
University of California, San Diego
Yang, Jian
Australia, Brisbane
The University of Queensland
Edwards, Digna R.Velez
United States, Nashville
Vanderbilt University
Nyegaard, Mette
Denmark, Aarhus
Aarhus Universitet
Denmark, Copenhagen
H. Lundbeck A/s
Low, Siew Kee
Japan, Wako
Riken
Zondervan, Krina T.
United Kingdom, Oxford
University of Oxford
United Kingdom, Oxford
John Radcliffe Hospital
Missmer, Stacey A.
United States, Boston
Harvard T.h. Chan School of Public Health
United States, Boston
Brigham and Women's Hospital
D'Hooghe, Thomas Maria
Belgium, Leuven
Ku Leuven
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Germany, Darmstadt
Merck Kgaa
Montgomery, Grant W.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Australia, Brisbane
The University of Queensland
Chasman, Daniel I.
United States, Boston
Harvard T.h. Chan School of Public Health
United States, Boston
Brigham and Women's Hospital
Stefánsson, Kari
Iceland, Reykjavik
Decode Genetics
Iceland, Reykjavik
Haskoli Islands
Tung, Joyce Y.
United States, Mountain View
23andme Inc.
Nyholt, Dale
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Australia, Brisbane
Queensland University of Technology
Statistics
Citations: 213
Authors: 38
Affiliations: 27
Identifiers
Doi:
10.1038/ncomms15539
ISSN:
20411723
Research Areas
Sexual And Reproductive Health
Study Design
Case-Control Study
Study Approach
Systematic review