Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts.

Adult Case-Control Studies Cohort Studies Female Forced Expiratory Volume Genome-Wide Association Study Humans Male Middle Aged Phenotype Pulmonary Disease, Chronic Obstructive / diagnosis Risk Factors Vital Capacity

Journal

The Lancet. Respiratory medicine
ISSN: 2213-2619
Titre abrégé: Lancet Respir Med
Pays: England
ID NLM: 101605555

Informations de publication

Date de publication:
07 2020
Historique:
received: 29 09 2019
revised: 24 01 2020
accepted: 17 02 2020
pubmed: 11 7 2020
medline: 15 8 2020
entrez: 11 7 2020
Statut: ppublish

Résumé

Genetic factors influence chronic obstructive pulmonary disease (COPD) risk, but the individual variants that have been identified have small effects. We hypothesised that a polygenic risk score using additional variants would predict COPD and associated phenotypes. We constructed a polygenic risk score using a genome-wide association study of lung function (FEV The polygenic risk score was associated with COPD in European (odds ratio [OR] per SD 1·81 [95% CI 1·74-1·88] and non-European (1·42 [1·34-1·51]) populations. Compared with the first decile, the tenth decile of the polygenic risk score was associated with COPD, with an OR of 7·99 (6·56-9·72) in European ancestry and 4·83 (3·45-6·77) in non-European ancestry cohorts. The polygenic risk score was superior to previously described genetic risk scores and, when combined with clinical risk factors (ie, age, sex, and smoking pack-years), showed improved prediction for COPD compared with a model comprising clinical risk factors alone (AUC 0·80 [0·79-0·81] vs 0·76 [0·75-0·76]). The polygenic risk score was associated with CT imaging phenotypes, including wall area percent, quantitative and qualitative measures of emphysema, local histogram emphysema patterns, and destructive emphysema subtypes. The polygenic risk score was associated with a reduced lung growth pattern. A risk score comprised of genetic variants can identify a small subset of individuals at markedly increased risk for moderate-to-severe COPD, emphysema subtypes associated with cigarette smoking, and patterns of reduced lung growth. US National Institutes of Health, Wellcome Trust.

Sections du résumé

BACKGROUND
Genetic factors influence chronic obstructive pulmonary disease (COPD) risk, but the individual variants that have been identified have small effects. We hypothesised that a polygenic risk score using additional variants would predict COPD and associated phenotypes.
METHODS
We constructed a polygenic risk score using a genome-wide association study of lung function (FEV
FINDINGS
The polygenic risk score was associated with COPD in European (odds ratio [OR] per SD 1·81 [95% CI 1·74-1·88] and non-European (1·42 [1·34-1·51]) populations. Compared with the first decile, the tenth decile of the polygenic risk score was associated with COPD, with an OR of 7·99 (6·56-9·72) in European ancestry and 4·83 (3·45-6·77) in non-European ancestry cohorts. The polygenic risk score was superior to previously described genetic risk scores and, when combined with clinical risk factors (ie, age, sex, and smoking pack-years), showed improved prediction for COPD compared with a model comprising clinical risk factors alone (AUC 0·80 [0·79-0·81] vs 0·76 [0·75-0·76]). The polygenic risk score was associated with CT imaging phenotypes, including wall area percent, quantitative and qualitative measures of emphysema, local histogram emphysema patterns, and destructive emphysema subtypes. The polygenic risk score was associated with a reduced lung growth pattern.
INTERPRETATION
A risk score comprised of genetic variants can identify a small subset of individuals at markedly increased risk for moderate-to-severe COPD, emphysema subtypes associated with cigarette smoking, and patterns of reduced lung growth.
FUNDING
US National Institutes of Health, Wellcome Trust.

Identifiants

DOI: 10.1016/S2213-2600(20)30101-6 PMID: 32649918 PMC: PMC7429152
pubmed: 32649918
pii: S2213-2600(20)30101-6
doi: 10.1016/S2213-2600(20)30101-6
pmc: PMC7429152
mid: NIHMS1612047
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

696-708

Subventions

Organisme : NHLBI NIH HHS
ID : R01 HL113264
Pays : United States
Organisme : Medical Research Council
ID : MC_UU_00006/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_12015/1
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : R01 HL147148
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL135142
Pays : United States
Organisme : Medical Research Council
ID : MR/P00167X/1
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : R01 HL137927
Pays : United States
Organisme : NHLBI NIH HHS
ID : K08 HL136928
Pays : United States
Organisme : Medical Research Council
ID : MR/S019669/1
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : R01 HL131565
Pays : United States
Organisme : NHLBI NIH HHS
ID : P01 HL132825
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL122464
Pays : United States
Organisme : Medical Research Council
ID : MC_PC_17228
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : R01 HL133135
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL139634
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL130114
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL105756
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL111024
Pays : United States
Organisme : NHLBI NIH HHS
ID : U01 HL089856
Pays : United States
Organisme : NHLBI NIH HHS
ID : T32 HL007427
Pays : United States
Organisme : Medical Research Council
ID : MC_QA137853
Pays : United Kingdom

Investigateurs

María Soler Artigas (M)
Victoria E Jackson (VE)
David P Strachan (DP)
Jennie Hui (J)
Alan L James (AL)
Shona M Kerr (SM)
Ozren Polasek (O)
Veronique Vitart (V)
Jonathan Marten (J)
Igor Rudan (I)
Mika Kähönen (M)
Ida Surakka (I)
Christian Gieger (C)
Stefan Karrasch (S)
Rajesh Rawal (R)
Holger Schulz (H)
Ian J Deary (IJ)
Sarah E Harris (SE)
Stefan Enroth (S)
Ulf Gyllensten (U)
Medea Imboden (M)
Nicole M Probst-Hensch (NM)
Terho Lehtimäki (T)
Olli T Raitakari (OT)
Claudia Langenberg (C)
Jian'an Luan (J)
Nick Wareham (N)
Jing Hua Zhao (JH)
Caroline Hayward (C)
Alison Murray (A)
David J Porteous (DJ)
Blair H Smith (BH)
Marjo-Riitta Jarvelin (MR)
Matthias Wielscher (M)
Peter K Joshi (PK)
Katherine A Kentistou (KA)
Paul Rhj Timmers (PR)
James F Wilson (JF)
James P Cook (JP)
Lars Lind (L)
Anubha Mahajan (A)
Andrew P Morris (AP)
Ralf Ewert (R)
Georg Homuth (G)
Beate Stubbe (B)
Stefan Weiss (S)
Eleftheria Zeggini (E)

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2020 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license. Published by Elsevier Ltd.. All rights reserved.

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Auteurs

Matthew Moll (M)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Phuwanat Sakornsakolpat (P)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Nick Shrine (N)

Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, UK.

Brian D Hobbs (BD)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Dawn L DeMeo (DL)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Catherine John (C)

Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, UK.

Anna L Guyatt (AL)

Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, UK.

Michael J McGeachie (MJ)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Sina A Gharib (SA)

Computational Medicine Core, Center for Lung Biology, Department of Medicine, University of Washington, Seattle, WA, USA; Division of Pulmonary, Critical Care, and Sleep Medicine, Department of Medicine, University of Washington, Seattle, WA, USA.

Ma'en Obeidat (M)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; University of British Columbia Center for Heart Lung Innovation, St Paul's Hospital, Vancouver, BC, Canada.

Lies Lahousse (L)

Department of Epidemiology, Erasmus Medical Centre, Rotterdam, Netherlands; Department of Bioanalysis, Faculty of Pharmaceutical Sciences, Ghent University, Ghent, Belgium.

Sara R A Wijnant (SRA)

Department of Epidemiology, Erasmus Medical Centre, Rotterdam, Netherlands; Department of Bioanalysis, Faculty of Pharmaceutical Sciences, Ghent University, Ghent, Belgium; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.

Guy Brusselle (G)

Department of Epidemiology, Erasmus Medical Centre, Rotterdam, Netherlands; Department of Respiratory Medicine, Erasmus Medical Centre, Rotterdam, Netherlands; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.

Deborah A Meyers (DA)

Department of Medicine, University of Arizona, Tucson, AZ, USA.

Eugene R Bleecker (ER)

Department of Medicine, University of Arizona, Tucson, AZ, USA.

Xingnan Li (X)

Department of Medicine, University of Arizona, Tucson, AZ, USA.

Ruth Tal-Singer (R)

GlaxoSmithKline Research and Development, Collegeville, PA, USA.

Ani Manichaikul (A)

Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA; Department of Public Health Sciences, University of Virginia, Charlottesville, VA, USA.

Stephen S Rich (SS)

Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA; Department of Public Health Sciences, University of Virginia, Charlottesville, VA, USA.

Sungho Won (S)

Department of Public Health Sciences, Graduate School of Public Health, Seoul National University, Seoul, South Korea; Interdisciplinary Program of Bioinformatics, College of National Sciences, Seoul National University, Seoul, South Korea; Institute of Health and Environment, Seoul National University, Seoul, South Korea.

Woo Jin Kim (WJ)

Department of Internal Medicine, Kangwon National University, Chuncheon, South Korea.

Ah Ra Do (AR)

Interdisciplinary Program of Bioinformatics, College of National Sciences, Seoul National University, Seoul, South Korea.

George R Washko (GR)

Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.

R Graham Barr (RG)

Department of Medicine and Department of Epidemiology, Columbia University Medical Center, New York, NY, USA.

Bruce M Psaty (BM)

Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA; Kaiser Permanente Washington Health Research Institute, Seattle, WA.

Traci M Bartz (TM)

Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.

Nadia N Hansel (NN)

School of Medicine, Johns Hopkins University, Baltimore, MD, USA.

Kathleen Barnes (K)

Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.

John E Hokanson (JE)

School of Public Health, University of Colorado, Denver.

James D Crapo (JD)

Division of Pulmonary, Critical Care, and Sleep Medicine, National Jewish Health, Denver, CO, USA.

David Lynch (D)

Department of Radiology, National Jewish Health, Denver, CO, USA.

Per Bakke (P)

Department of Clinical Science, University of Bergen, Bergen, Norway.

Amund Gulsvik (A)

Division of Respiratory Medicine, Queen's Medical Centre, Nottingham, UK.

Ian P Hall (IP)

National Institute for Health Research Leicester Respiratory Biomedical Research Centre, Glenfield Hospital, Leicester, UK.

Louise Wain (L)

Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, UK; National Institute for Health Research Leicester Respiratory Biomedical Research Centre, Glenfield Hospital, Leicester, UK.

Scott T Weiss (ST)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Edwin K Silverman (EK)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.

Frank Dudbridge (F)

Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, UK.

Martin D Tobin (MD)

Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, UK; National Institute for Health Research Leicester Respiratory Biomedical Research Centre, Glenfield Hospital, Leicester, UK. Electronic address: martin.tobin@leicester.ac.uk.

Michael H Cho (MH)

Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA. Electronic address: remhc@channing.harvard.edu.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Chronic obstructive pulmonary disease and...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études cas-témoins › Chronic obstructive pulmonary disease and...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Chronic obstructive pulmonary disease and...
questionsmedicales.fr › Phénomènes physiologiques respiratoires et circulatoires › Phénomènes physiologiques respiratoires › Ventilation pulmonaire › Volume expiratoire maximal par seconde › Chronic obstructive pulmonary disease and...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Chronic obstructive pulmonary disease and...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Chronic obstructive pulmonary disease and...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Chronic obstructive pulmonary disease and...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Chronic obstructive pulmonary disease and...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladie chronique › Broncho-pneumopathie chronique obstructive › Chronic obstructive pulmonary disease and...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Facteurs de risque › Chronic obstructive pulmonary disease and...
questionsmedicales.fr › Phénomènes physiologiques respiratoires et circulatoires › Phénomènes physiologiques respiratoires › Capacité pulmonaire totale › Capacité vitale › Chronic obstructive pulmonary disease and...