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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry
Scientific Reports, Volume 7, No. 1, Article 11380, Year 2017
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Description
Genome-wide association (GWA) studies have identified 19 independent common risk loci for endometriosis. Most of the GWA variants are non-coding and the genes responsible for the association signals have not been identified. Herein, we aimed to assess the potential role of protein-modifying variants in endometriosis using exome-array genotyping in 7164 cases and 21005 controls, and a replication set of 1840 cases and 129016 controls of European ancestry. Results in the discovery sample identified significant evidence for association with coding variants in single-variant (rs1801232-CUBN) and gene-level (CIITA and PARP4) meta-analyses, but these did not survive replication. In the combined analysis, there was genome-wide significant evidence for rs13394619 (P = 2.3 × 10-9) in GREB1 at 2p25.1 - a locus previously identified in a GWA meta-analysis of European and Japanese samples. Despite sufficient power, our results did not identify any protein-modifying variants (MAF > 0.01) with moderate or large effect sizes in endometriosis, although these variants may exist in non-European populations or in high-risk families. The results suggest continued discovery efforts should focus on genotyping large numbers of surgically-confirmed endometriosis cases and controls, and/or sequencing high-risk families to identify novel rare variants to provide greater insights into the molecular pathogenesis of the disease. © 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
De Vivo, Immaculata
United States, Boston
Harvard Medical School
United States, Boston
Brigham and Women's Hospital
Steinthórsdóttir, Valgerdur
Iceland, Reykjavik
Decode Genetics
Fassbender, Amelie
Belgium, Leuven
Ku Leuven
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Bowdler, Lisa M.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Buring, Julie E.
United States, Boston
Harvard Medical School
United States, Boston
Brigham and Women's Hospital
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 Medical School
United States, Boston
Brigham and Women's Hospital
Ridker, Paul M.
United States, Boston
Harvard Medical School
United States, Boston
Brigham and Women's Hospital
Schork, Andrew Joseph
United States, La Jolla
Department of Cognitive Science
Denmark, Copenhagen
Copenhagen University Hospital
Thorleifsson, Gudmar
Iceland, Reykjavik
Decode Genetics
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
Kraft, Peter
United States, Boston
Harvard T.h. Chan School of Public Health
Morris, Andrew Paul
United Kingdom, Liverpool
University of Liverpool
Nyholt, Dale
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Australia, Brisbane
Queensland University of Technology
Nyegaard, Mette
Denmark, Aarhus
Aarhus Universitet
Denmark, Arhus
The Lundbeck Foundation Initiative for Integrative Psychiatric Research
D'Hooghe, Thomas Maria
Belgium, Leuven
Ku Leuven
Chasman, Daniel I.
United States, Boston
Harvard Medical School
United States, Boston
Brigham and Women's Hospital
Stefánsson, Kari
Iceland, Reykjavik
Decode Genetics
Iceland, Reykjavik
Haskoli Islands
Missmer, Stacey A.
United States, Boston
Harvard Medical School
United States, Boston
Brigham and Women's Hospital
Montgomery, Grant W.
Australia, Brisbane
Qimr Berghofer Medical Research Institute
Australia, Brisbane
The University of Queensland
Statistics
Citations: 18
Authors: 25
Affiliations: 21
Identifiers
Doi:
10.1038/s41598-017-10440-9
ISSN:
20452322
Research Areas
Genetics And Genomics
Study Approach
Systematic review