Evidence map›Paper›PMID 31527586›Full record

SynthesisNature communications2019

Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases.

Jiyuan An, Puya Gharahkhani, Matthew H Law, Jue-Sheng Ong, Xikun Han, Catherine M Olsen, Rachel E Neale, John Lai, Tom L Vaughan, Ines Gockel and 10 more

Erratum issuedOpen access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 45 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed, 7 pooled it
5.7field-weighted citation impact, top 3% 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

45 citing papers in PubMed, 7 syntheses or guidelines pooled it, 82 citations in OpenAlex.

  1. Pooled it
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  8. Randomized Controlled Trial of the Gastrin/CCKCancer prevention research (Philadelphia, Pa.) · 2021
    Trial
  9. Article
  10. Article
  11. Immune functions of the esophagus.The Journal of allergy and clinical immunology · 2026
    Review
  12. Article
  13. Article
  14. Article
  15. Characterizing Stroke Clots Using Single-Cell Sequencing.Journal of the American Heart Association · 2025
    Article
  16. The oesophagus as an immune organ.Nature reviews. Gastroenterology & hepatology · 2025
    Review
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors at 10 institutions in 5 countries.

Jiyuan AnStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Puya GharahkhaniStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0002-4203-5952
Matthew H LawStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0002-4303-8821
Jue-Sheng OngStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0002-6062-710X
Xikun HanStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0002-3823-7308
Catherine M OlsenCancer Control, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID http://orcid.org/0000-0003-4483-1888
Rachel E NealeCancer Aetiology and Prevention, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
John LaiCentre for Epidemiology and Biostatistics, The University of Melbourne, Melbourne, VIC, Australia.
Tom L VaughanDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Ines GockelDepartment of Visceral, Transplant, Thoracic and Vascular Surgery, University Hospital of Leipzig, Leipzig, Germany.
René ThiemeDepartment of Visceral, Transplant, Thoracic and Vascular Surgery, University Hospital of Leipzig, Leipzig, Germany.
Anne C BöhmerInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.ORCID http://orcid.org/0000-0002-5716-786X
Janusz JankowskiRoyal College of Surgeons in Ireland, Dublin, Ireland.
Rebecca C FitzgeraldMedical Research Council (MRC) Cancer Unit, Hutchison-MRC Research Centre and University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-3434-3568
Johannes SchumacherInstitute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Claire PallesInstitute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
BEACON
23andMe Research Team
David C WhitemanCancer Control, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Stuart MacGregorStatistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. stuart.macgregor@qimrberghofer.edu.au.ORCID http://orcid.org/0000-0001-6731-8142
23andMe (United States) · USQIMR Berghofer Medical Research Institute · AUUniversity Hospital Leipzig · DEUniversity of Bonn · DEFred Hutch Cancer Center · USMRC Cancer Unit · GBQueensland University of Technology · AURoyal College of Surgeons in Ireland · IEThe University of Melbourne · AUUniversity of Birmingham · GB

Funding

Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Fabien Delerue · 1985 to 2026
$290.8M
UT M.D. Anderson Cancer Center SPORE in MelanomaP50CA093459 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI GRIMM, ELIZABETH A · 2004 to 2014
$23.7M
Whole Exome Approaches for Esophageal Adenocarcinoma Susceptibility GenesU54CA163060 · NCI · CASE WESTERN RESERVE UNIVERSITY · PI CHAK, AMITABH, GUDA, KISHORE · 2011 to 2022
$14.0M
Barrett's and Esophageal Adenocarcinoma Genetic Susceptibility Study (BEAGESS)R01CA136725 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI VAUGHAN, THOMAS L, WHITEMAN, DAVID C · 2009 to 2011
$7.8M
Epidemiology and Incidence of Barrett's EsophagusR01DK063616 · NIDDK · KAISER FOUNDATION RESEARCH INSTITUTE · PI CORLEY, DOUGLAS ALLEN · 2002 to 2010
$2.6M
IKK Signals in Lymphocyte Physiology and PathologyR01AI057947 · NIAID · IMMUNE DISEASE INSTITUTE, INC. · PI RAJEWSKY, KLAUS · 2004 to 2008
$2.3M
Genetic Predictors for DNA Repair Phenotype in CMMR01CA100264 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI WEI, QINGYI · 2004 to 2008
$1.5M
Statistical Methods for Gene Environment Interactions In Lung CancerR01CA133996 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI AMOS, CHRISTOPHER I. · 2007 to 2009
$790k
NCI NIH HHS P30 CA016672NCI NIH HHS P50 CA093459NCI NIH HHS R01 CA100264NCI NIH HHS R01 CA133996NCI NIH HHS R01 CA136725NCI NIH HHS U54 CA163060NHGRI NIH HHS HHSN268200782096CNIAID NIH HHS R01 AI057947NIDDK NIH HHS R01 DK063616Wellcome Trust
6 · The paper itself

Abstract

Gastroesophageal reflux disease (GERD) is caused by gastric acid entering the esophagus. GERD has high prevalence and is the major risk factor for Barrett's esophagus (BE) and esophageal adenocarcinoma (EA). We conduct a large GERD GWAS meta-analysis (80,265 cases, 305,011 controls), identifying 25 independent genome-wide significant loci for GERD. Several of the implicated genes are existing or putative drug targets. Loci discovery is greatest with a broad GERD definition (including cases defined by self-report or medication data). Further, 91% of the GERD risk-increasing alleles also increase BE and/or EA risk, greatly expanding gene discovery for these traits. Our results map genes for GERD and related traits and uncover potential new drug targets for these conditions.

Indexed as

Genome-Wide Association StudyEsophageal DiseasesFemaleGastroesophageal RefluxGenetic LociGenetic Predisposition to DiseaseHumansMalePolymorphism, Single Nucleotide

Identifiers

PMID31527586
PMCPMC6746768
OpenAlexW2974503949

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.