Evidence map›Paper›PMID 28166213›Full record

ArticleNature genetics2017

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.

Louise V Wain, Nick Shrine, María Soler Artigas, A Mesut Erzurumluoglu, Boris Noyvert, Lara Bossini-Castillo, Ma'en Obeidat, Amanda P Henry, Michael A Portelli, Robert J Hall and 98 more

Open access · greenAbstract read
In one paragraph

Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 179 papers, 11 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
179citing papers in PubMed, 11 pooled it
35.4field-weighted citation impact, top 1% 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

179 citing papers in PubMed, 11 syntheses or guidelines pooled it, 310 citations in OpenAlex.

  1. Pooled it
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  12. Genome-Wide Association Analysis of Single-Breath DlAmerican journal of respiratory cell and molecular biology · 2019
    Trial
  13. Article
  14. Review
  15. Long isoforms of the COPD risk gene FAM13A orchestrate human lung epithelial development.American journal of respiratory cell and molecular biology · 2026
    Article
  16. Review
  17. Article
  18. Article
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119 more citing papers are in PubMed but not listed here.

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

108 authors at 20 institutions in 14 countries.

Louise V WainDepartment of Health Sciences, University of Leicester, Leicester, UK.ORCID http://orcid.org/0000-0003-4951-1867
Nick ShrineDepartment of Health Sciences, University of Leicester, Leicester, UK.
María Soler ArtigasDepartment of Health Sciences, University of Leicester, Leicester, UK.
A Mesut ErzurumluogluDepartment of Health Sciences, University of Leicester, Leicester, UK.ORCID http://orcid.org/0000-0003-1322-8138
Boris NoyvertDepartment of Health Sciences, University of Leicester, Leicester, UK.
Lara Bossini-CastilloWellcome Trust Sanger Institute, Hinxton, UK.
Ma'en ObeidatUniversity of British Columbia Centre for Heart Lung Innovation, St Paul's Hospital, Vancouver, British Columbia, Canada.ORCID http://orcid.org/0000-0002-5443-2752
Amanda P HenryDivision of Respiratory Medicine, University of Nottingham, Nottingham, UK.
Michael A PortelliDivision of Respiratory Medicine, University of Nottingham, Nottingham, UK.
Robert J HallDivision of Respiratory Medicine, University of Nottingham, Nottingham, UK.
Charlotte K BillingtonDivision of Respiratory Medicine, University of Nottingham, Nottingham, UK.
Tracy L RimingtonDivision of Respiratory Medicine, University of Nottingham, Nottingham, UK.
Anthony G FenechDepartment of Clinical Pharmacology and Therapeutics, University of Malta, Msida, Malta.ORCID http://orcid.org/0000-0002-7654-8828
Catherine JohnDepartment of Health Sciences, University of Leicester, Leicester, UK.
Tineka BlakeDepartment of Health Sciences, University of Leicester, Leicester, UK.
Victoria E JacksonDepartment of Health Sciences, University of Leicester, Leicester, UK.
Richard J AllenDepartment of Health Sciences, University of Leicester, Leicester, UK.
Bram P PrinsDepartment of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.
Understanding Society Scientific Group
Archie CampbellMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0003-0198-5078
David J PorteousMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Marjo-Riitta JarvelinDepartment of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London, UK.
Matthias WielscherDepartment of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London, UK.
Alan L JamesBusselton Population Medical Research Institute, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
Jennie HuiBusselton Population Medical Research Institute, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
Nicholas J WarehamMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK.
Jing Hua ZhaoMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK.
James F WilsonCentre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0001-5751-9178
Peter K JoshiCentre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-6361-5059
Beate StubbeDepartment of Internal Medicine B-Cardiology, Intensive Care, Pulmonary Medicine and Infectious Diseases, University Medicine Greifswald, Greifswald, Germany.
Rajesh RawalResearch Unit of Molecular Epidemiology, Institute of Epidemiology II, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Holger SchulzInstitute of Epidemiology I, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Medea ImbodenSwiss Tropical and Public Health Institute, Basel, Switzerland.
Nicole M Probst-HenschSwiss Tropical and Public Health Institute, Basel, Switzerland.
Stefan KarraschInstitute of Epidemiology I, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Christian GiegerResearch Unit of Molecular Epidemiology, Institute of Epidemiology II, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Ian J DearyCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK.
Sarah E HarrisMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Jonathan MartenMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Igor RudanCentre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0001-6993-6884
Stefan EnrothDepartment of Immunology, Genetics and Pathology, Uppsala Universitet, Science for Life Laboratory, Uppsala, Sweden.ORCID http://orcid.org/0000-0002-5056-9137
Ulf GyllenstenDepartment of Immunology, Genetics and Pathology, Uppsala Universitet, Science for Life Laboratory, Uppsala, Sweden.
Shona M KerrMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Ozren PolasekCentre for Global Health Research, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, UK.
Mika KähönenDepartment of Clinical Physiology, University of Tampere and Tampere University Hospital, Tampere, Finland.
Ida SurakkaInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Veronique VitartMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Caroline HaywardMedical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Terho LehtimäkiDepartment of Clinical Chemistry, Fimlab Laboratories and School of Medicine University of Tampere, Tampere, Finland.
Olli T RaitakariDepartment of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, Finland.
David M EvansUniversity of Queensland Diamantina Institute, Translational Research Institute, University of Queensland, Brisbane, Queensland, Australia.
A John HendersonSchool of Social and Community Medicine, University of Bristol, Bristol, UK.
Craig E PennellSchool of Women's and Infants' Health, University of Western Australia, Perth, Western Australia, Australia.
Carol A WangSchool of Women's and Infants' Health, University of Western Australia, Perth, Western Australia, Australia.
Peter D SlyChild Health Research Centre, Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0001-6305-2201
Emily S WanChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Robert BuschChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.ORCID http://orcid.org/0000-0003-0820-7164
Brian D HobbsChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.ORCID http://orcid.org/0000-0001-9564-0745
Augusto A LitonjuaChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
David W SparrowVA Boston Healthcare System, Boston, Massachusetts, USA.
Amund GulsvikDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Per S BakkeDepartment of Clinical Science, University of Bergen, Bergen, Norway.
James D CrapoNational Jewish Health, Denver, Colorado, USA.
Terri H BeatyDepartment of Epidemiology, Johns Hopkins University School of Public Health, Baltimore, Maryland, USA.
Nadia N HanselPulmonary and Critical Care Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Rasika A MathiasDivision of Allergy and Clinical Immunology, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Ingo RuczinskiDepartment of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA.
Kathleen C BarnesDivision of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, Colorado, USA.
Yohan BosséDepartment of Molecular Medicine, Laval University, Quebec City, Quebec, Canada.ORCID http://orcid.org/0000-0002-3067-3711
Philippe JoubertInstitut Universitaire de Cardiologie et de Pneumologie de Québec, Laval University, Quebec City, Quebec, Canada.
Maarten van den BergeUniversity of Groningen, University Medical Center Groningen, Department of Pulmonology, GRIAC Research Institute, Groningen, the Netherlands.
Corry-Anke BrandsmaUniversity of Groningen, University Medical Center Groningen, Department of Pathology and Medical Biology, GRIAC Research Institute, Groningen, the Netherlands.
Peter D ParéUniversity of British Columbia Centre for Heart Lung Innovation, St Paul's Hospital, Vancouver, British Columbia, Canada.
Don D SinUniversity of British Columbia Centre for Heart Lung Innovation, St Paul's Hospital, Vancouver, British Columbia, Canada.
David C NickleMerck Research Laboratories, Genetics and Pharmacogenomics, Boston, Massachusetts, USA.
Ke HaoIcahn Institute of Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Omri GottesmanRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, USA.
Frederick E DeweyRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, USA.
Shannon E BruseRegeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, USA.ORCID http://orcid.org/0000-0002-3037-6266
David J CareyGeisinger Health System, Danville, Pennsylvania, USA.
H Lester KirchnerGeisinger Health System, Danville, Pennsylvania, USA.
Geisinger-Regeneron DiscovEHR Collaboration
Stefan JonssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Gudmar ThorleifssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Ingileif JonsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8339-150X
Thorarinn GislasonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Kari StefanssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Claudia SchurmannCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.ORCID http://orcid.org/0000-0003-4158-9192
Girish NadkarniCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Erwin P BottingerCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Ruth J F LoosCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Robin G WaltersClinical Trial Service Unit and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-9179-0321
Zhengming ChenClinical Trial Service Unit and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Iona Y MillwoodClinical Trial Service Unit and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Julien VaucherClinical Trial Service Unit and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-3230-3693
Om P KurmiClinical Trial Service Unit and Epidemiological Studies Unit (CTSU), Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Liming LiChinese Academy of Medical Sciences, Beijing, China.
Anna L HansellUK Small Area Health Statistics Unit, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London, UK.
Chris BrightlingNational Institute for Health Research, Leicester Respiratory Biomedical Research Unit, Glenfield Hospital, Leicester, UK.
Eleftheria ZegginiDepartment of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.ORCID http://orcid.org/0000-0003-4238-659X
Michael H ChoChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.ORCID http://orcid.org/0000-0002-4907-1657
Edwin K SilvermanChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Ian SayersDivision of Respiratory Medicine, University of Nottingham, Nottingham, UK.ORCID http://orcid.org/0000-0001-5601-5410
Gosia TrynkaWellcome Trust Sanger Institute, Hinxton, UK.ORCID http://orcid.org/0000-0002-6955-9529
Andrew P MorrisDepartment of Biostatistics, University of Liverpool, Liverpool, UK.
David P StrachanPopulation Health Research Institute, St George's, University of London, London, UK.ORCID http://orcid.org/0000-0001-7854-1366
Ian P HallDivision of Respiratory Medicine, University of Nottingham, Nottingham, UK.
Martin D TobinDepartment of Health Sciences, University of Leicester, Leicester, UK.ORCID http://orcid.org/0000-0002-3596-7874
University of Leicester · GBUniversity of Nottingham · GBBrigham and Women's Hospital · USInstitute of Genetics and Cancer · GBdeCODE Genetics (Iceland) · ISJohns Hopkins University · USUniversity of Oxford · GBRegeneron (United States) · USThe University of Western Australia · AUHelmholtz Zentrum München · DEIcahn School of Medicine at Mount Sinai · USScience for Life Laboratory · SESwiss Tropical and Public Health Institute · CHUniversity Medical Center Groningen · NLUniversity of British Columbia · CABoston University · USEdinburgh Cancer Research · GBImperial College Healthcare NHS Trust · GBMerck & Co., Inc., Rahway, NJ, USA (United States) · USTranslational Research Institute · AU

Funding

Genetic Epidemiology of COPDU01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2007 to 2021
$56.9M
Metabolomic signatures of empysema and COPD progression in the COPDGene cohortR01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2012 to 2016
$31.1M
Genetic Epidemiology of COPDU01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2007 to 2021
$20.7M
(2 of 2) Genetic Epidemiology of COPDR01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2012 to 2016
$18.9M
Transforming Genomics with 5 PB Big Omics Data Engine Cray CS300-AC SupercomputerS10OD018522 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2014 to 2014
$1.9M
Biotechnology and Biological Sciences Research Council BB/F019394/1Chief Scientist Office CZD/16/6/4Medical Research Council G0801056Medical Research Council G0902313Medical Research Council G1000861Medical Research Council G9815508Medical Research Council MC_PC_12010Medical Research Council MC_PC_13049Medical Research Council MC_PC_14135Medical Research Council MC_PC_15018Medical Research Council MC_PC_U127561128Medical Research Council MC_QA137853Medical Research Council MC_U137686851Medical Research Council MC_UU_12013/4Medical Research Council MC_UU_12026/2Medical Research Council MR/K026992/1Medical Research Council MR/M022501/1Medical Research Council MR/N01104X/1Medical Research Council MR/N01104X/2Medical Research Council MR/N011317/1Medical Research Council MR/N014995/1Medical Research Council MR/P00167X/1NHLBI NIH HHS R01 HL089856NHLBI NIH HHS R01 HL089897NHLBI NIH HHS U01 HL089856NHLBI NIH HHS U01 HL089897NIH HHS S10 OD018522Wellcome Trust 202849/Z/16/Z
6 · The paper itself

Abstract

Chronic obstructive pulmonary disease (COPD) is characterized by reduced lung function and is the third leading cause of death globally. Through genome-wide association discovery in 48,943 individuals, selected from extremes of the lung function distribution in UK Biobank, and follow-up in 95,375 individuals, we increased the yield of independent signals for lung function from 54 to 97. A genetic risk score was associated with COPD susceptibility (odds ratio per 1 s.d. of the risk score (∼6 alleles) (95% confidence interval) = 1.24 (1.20-1.27), P = 5.05 × 10

Indexed as

AdultAgedAged, 80 and overAllelesAsthmaEpigenesis, GeneticFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLungMaleMiddle AgedPolymorphism, Single NucleotidePulmonary Disease, Chronic Obstructive

Identifiers

PMID28166213
PMCPMC5326681
OpenAlexW2573109541

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Registered trials

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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.