Evidence map›Paper›PMID 28900119›Full record

ArticleScientific reports2017

Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry.

Yadav Sapkota, Immaculata De Vivo, Valgerdur Steinthorsdottir, Amelie Fassbender, Lisa Bowdler, Julie E Buring, Todd L Edwards, Sarah Jones, Dorien O, Daniëlle Peterse and 16 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
3.6field-weighted citation impact, top 8% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Pathogenesis of Endometriosis and Endometriosis-Associated Cancers.International journal of molecular sciences · 2024
    Review
  5. Review
  6. Review
  7. Polygenic Risk Score Prediction for Endometriosis.Frontiers in reproductive health · 2021
    Article
  8. Article
  9. Review
  10. Review
  11. Review
  12. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

26 authors at 14 institutions in 6 countries.

Yadav SapkotaDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. Yadav.Sapkota@stjude.org.
Immaculata De VivoHarvard Medical School, Boston, MA, USA.
Valgerdur SteinthorsdottirdeCODE genetics/Amgen, Reykjavik, Iceland.
Amelie FassbenderKULeuven, Department of Development and Regeneration, Organ systems, Leuven, Belgium.
Lisa BowdlerDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Julie E BuringHarvard Medical School, Boston, MA, USA.
Todd L EdwardsInstitute of Medicine and Public Health, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-4318-6119
Sarah JonesVanderbilt Genetics Institute, Division of Epidemiology, Institute of Medicine and Public Health, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Dorien OKULeuven, Department of Development and Regeneration, Organ systems, Leuven, Belgium.
Daniëlle PeterseKULeuven, Department of Development and Regeneration, Organ systems, Leuven, Belgium.
Kathryn M RexrodeHarvard Medical School, Boston, MA, USA.
Paul M RidkerHarvard Medical School, Boston, MA, USA.
Andrew J SchorkCognitive Science Department, University of California, San Diego, La Jolla, California, USA.
Gudmar ThorleifssondeCODE genetics/Amgen, Reykjavik, Iceland.
Leanne M WallaceDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
iPSYCH-SSI-Broad Group
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Andrew P MorrisDepartment of Biostatistics, University of Liverpool, Liverpool, United Kingdom.
Dale R NyholtDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Digna R Velez EdwardsVanderbilt Genetics Institute, Vanderbilt Epidemiology Center, Institute of Medicine and Public Health, Department of Obstetrics and Gynecology, Vanderbilt University Medical Center, Nashville, TN, USA.
Mette NyegaardDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.ORCID 0000-0003-4973-8543
Thomas D'HoogheKULeuven, Department of Development and Regeneration, Organ systems, Leuven, Belgium.
Daniel I ChasmanHarvard Medical School, Boston, MA, USA.
Kari StefanssondeCODE genetics/Amgen, Reykjavik, Iceland.
Stacey A MissmerHarvard Medical School, Boston, MA, USA.
Grant W MontgomeryDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0002-4140-8139
Brigham and Women's Hospital · USLeuven Institute for Fertility and Embryology · BEAarhus University · DKdeCODE Genetics (Iceland) · ISHarvard University · USQIMR Berghofer Medical Research Institute · AUVanderbilt University Medical Center · USCopenhagen University Hospital · DKMental Health Services · DKQueensland University of Technology · AUSt. Jude Children's Research Hospital · USThe University of Queensland · AUUniversity of Copenhagen · DKUniversity of Liverpool · GB

Funding

Women's Health Study: Continued Follow-upR01CA047988 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI BURING, JULIE E., LEE, I-MIN · 1991 to 2014
$28.2M
Life Course Cancer Epidemiology Cohort in WomenUM1CA176726 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI WILLETT, WALTER C. · 2013 to 2017
$15.7M
Women's Health Study: Continued Follow-UpR01HL080467 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI BURING, JULIE E. · 2005 to 2010
$4.5M
The Women's Health Study: Infrastructure Support for Continued Cohort Follow-upUM1CA182913 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI BURING, JULIE E., LEE, I-MIN · 2014 to 2018
$4.0M
TRIAL OF VITAMIN E, BETA-CAROTENE &ASPRIN IN WOMENR01HL043851 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI BURING, JULIE E · 1991 to 2000
$1.6M
Immunology, Inflammation, and EndometriosisR01HD057210 · NICHD · BRIGHAM AND WOMEN'S HOSPITAL · PI MISSMER, STACEY ANN · 2009 to 2012
$1.4M
NCI NIH HHS R01 CA047988NCI NIH HHS UM1 CA176726NCI NIH HHS UM1 CA182913NHLBI NIH HHS R01 HL043851NHLBI NIH HHS R01 HL080467NICHD NIH HHS R01 HD057210Wellcome Trust
6 · The paper itself

Abstract

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

Indexed as

Genetic VariationGenome-Wide Association StudyWhite PeopleBiomarkersCase-Control StudiesChromosome MappingEndometriosisExomeExome SequencingFemaleGenetic Predisposition to DiseaseHumansMeta-Analysis as TopicPolymorphism, Single NucleotideBiomarkers

Identifiers

PMID28900119
PMCPMC5595920
OpenAlexW2753407840

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.