title: Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.
abstract: Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
authors.affiliation: Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester LE1 7RH, UK.
authors.forename: María
authors.initials: M
authors.lastname: Soler Artigas
authors.affiliation: Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester LE1 7RH, UK.
authors.forename: Louise V
authors.initials: LV
authors.lastname: Wain
authors.affiliation: Division of Respiratory Medicine, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2RD, UK.
authors.forename: Suzanne
authors.initials: S
authors.lastname: Miller
authors.affiliation: Division of Respiratory Medicine, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2RD, UK.
authors.forename: Abdul Kader
authors.initials: AK
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authors.affiliation: MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland EH8 9AD, UK.
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: Huffman
authors.affiliation: Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester LE1 7RH, UK.
authors.forename: Ioanna
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authors.lastname: Ntalla
authors.affiliation: Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester LE1 7RH, UK.
authors.forename: Nick
authors.initials: N
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authors.affiliation: University of British Columbia Centre for Heart Lung Innovation, St Paul's Hospital, Vancouver, British Columbia, Canada V6Z 1Y6.
authors.forename: Ma'en
authors.initials: M
authors.lastname: Obeidat
authors.affiliation: MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland EH8 9AD, UK.|Generation Scotland, A Collaboration between the University Medical Schools and NHS, Aberdeen, Dundee, Edinburgh, Glasgow EH4 2XU, UK.
authors.forename: Holly
authors.initials: H
authors.lastname: Trochet
authors.affiliation: School of Social and Community Medicine, University of Bristol, Bristol BS8 1TH, UK.
authors.forename: Wendy L
authors.initials: WL
authors.lastname: McArdle
authors.affiliation: Department of Epidemiology and Biostatistics, MRC -PHE Centre for Environment &Health, School of Public Health, Imperial College London, London SW7 2AZ, UK.
authors.forename: Alexessander Couto
authors.initials: AC
authors.lastname: Alves
authors.affiliation: Busselton Population Medical Research Institute, Busselton, Western Australia 6280, Australia.|PathWest Laboratory Medicine WA, Sir Charles Gairdner Hospital, Western Australia 6009, Australia.|School of Population Health, The University of Western Australia, Western Australia 6009, Australia.|School of Pathology and Laboratory Medicine, The University of Western Australia, Western Australia 6009, Australia.
authors.forename: Jennie
authors.initials: J
authors.lastname: Hui
authors.affiliation: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0SL, UK.
authors.forename: Jing Hua
authors.initials: JH
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authors.affiliation: Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh EH8 9AD, Scotland, UK.
authors.forename: Peter K
authors.initials: PK
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authors.affiliation: University Medicine Greifswald, Community Medicine, SHIP-Clinical Epidemiological Research, Greifswald 17489, Germany.|Department for Genetics and Functional Genomics, Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald 17489, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Teumer
authors.affiliation: Institute of Genetic Epidemiology, Helmholtz Zentrum München German Research Center for Environmental Health, Neuherberg D-85764, Germany.
authors.forename: Eva
authors.initials: E
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authors.affiliation: Swiss Tropical and Public Health Institute, Basel 4051, Switzerland.|University of Basel, Basel 4001, Switzerland.
authors.forename: Medea
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authors.affiliation: Institute of Genetic Epidemiology, Helmholtz Zentrum München German Research Center for Environmental Health, Neuherberg D-85764, Germany.|Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg D-85764, Germany.|Institute of Epidemiology II, Helmholtz Zentrum München German Research Center for Environmental Health, Neuherberg D-85764, Germany.
authors.forename: Rajesh
authors.initials: R
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authors.affiliation: Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9AD, UK.|Department of Psychology, University of Edinburgh, Edinburgh EH8 9AD, UK.
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authors.initials: LM
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authors.affiliation: MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland EH8 9AD, UK.
authors.forename: Jonathan
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authors.affiliation: Department of Immunology, Genetics, and Pathology, Biomedical Center, SciLifeLab Uppsala, Uppsala University, Uppsala 751 23, Sweden.
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authors.affiliation: Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki FI-00014, Finland.|The National Institute for Health and Welfare (THL), Helsinki FI-00271, Finland.
authors.forename: Ida
authors.initials: I
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authors.affiliation: Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh EH8 9AD, Scotland, UK.|Department of Public Health, Faculty of Medicine, University of Split, Split 21000, Croatia.
authors.forename: Ozren
authors.initials: O
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authors.affiliation: Department of Clinical Chemistry, Fimlab Laboratories, Tampere FI-33101, Finland.|Department of Clinical Chemistry, University of Tampere School of Medicine, Tampere FI-33520, Finland.
authors.forename: Leo-Pekka
authors.initials: LP
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authors.affiliation: School of Social and Community Medicine, University of Bristol, Bristol BS8 1TH, UK.
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authors.affiliation: KCL Department of Twins Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.
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authors.initials: PG
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authors.affiliation: Institute of Epidemiology I, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg D-85764, Germany.
authors.forename: Claudia
authors.initials: C
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authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
authors.forename: Anubha
authors.initials: A
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authors.affiliation: Busselton Population Medical Research Institute, Busselton, Western Australia 6280, Australia.|PathWest Laboratory Medicine WA, Sir Charles Gairdner Hospital, Western Australia 6009, Australia.|School of Pathology and Laboratory Medicine, The University of Western Australia, Western Australia 6009, Australia.
authors.forename: John
authors.initials: J
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authors.affiliation: Department of Molecular Medicine, Institut Universitaire de Cardiologie et de Pneumologie de Québec, Laval University, Québec, Canada G1V 0A6.
authors.forename: Yohan
authors.initials: Y
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authors.affiliation: Department of Pathology and Medical Biology, University of Groningen, University Medical Center Groningen, Groningen 9700, The Netherlands.
authors.forename: Corry-Anke
authors.initials: CA
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authors.affiliation: Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh EH8 9AD, Scotland, UK.
authors.forename: Harry
authors.initials: H
authors.lastname: Campbell
authors.affiliation: Institute of Genetic Epidemiology, Helmholtz Zentrum München German Research Center for Environmental Health, Neuherberg D-85764, Germany.|Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg D-85764, Germany.|Institute of Epidemiology II, Helmholtz Zentrum München German Research Center for Environmental Health, Neuherberg D-85764, Germany.
authors.forename: Christian
authors.initials: C
authors.lastname: Gieger
authors.affiliation: Department of Internal Medicine B, Pneumology, Cardiology, Intensive Care, Weaning, Field of Research: Pneumological Epidemiology, University Medicine Greifswald, Greifswald 17489, Germany.
authors.forename: Sven
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authors.affiliation: Centre for Research in Environmental Epidemiology (CREAL), Barcelona E-08003, Spain.|CIBER Epidemiología y Salud Pública (CIBERESP), Madrid 28029, Spain.|Pompeu Fabra University (UPF), Barcelona 08002, Catalonia, Spain.
authors.forename: Juan R
authors.initials: JR
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authors.affiliation: Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg D-85764, Germany.
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authors.affiliation: KCL Department of Twins Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.
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authors.affiliation: Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9AD, UK.|Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh EH8 9AD, UK.
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authors.initials: SE
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authors.affiliation: The National Institute for Health and Welfare (THL), Helsinki FI-00271, Finland.
authors.forename: Markku
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authors.affiliation: School of Social and Community Medicine, University of Bristol, Bristol BS8 1TH, UK.
authors.forename: John
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authors.affiliation: Generation Scotland, A Collaboration between the University Medical Schools and NHS, Aberdeen, Dundee, Edinburgh, Glasgow EH4 2XU, UK.|Division of Applied Health Sciences, University of Aberdeen, Aberdeen, Scotland AB24 3FX, UK.
authors.forename: Lynne
authors.initials: L
authors.lastname: Hocking
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.|Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX1 2JD, UK.
authors.forename: Momoko
authors.initials: M
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authors.forename: Nina
authors.initials: N
authors.lastname: Hutri-Kähönen
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.|Department of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala 751 23, Sweden.|Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California 94305, USA.
authors.forename: Erik
authors.initials: E
authors.lastname: Ingelsson
authors.affiliation: Department of Immunology, Genetics, and Pathology, Biomedical Center, SciLifeLab Uppsala, Uppsala University, Uppsala 751 23, Sweden.|Uppsala Clinical Research Centre, Uppsala University, Uppsala 751 23, Sweden.
authors.forename: Åsa
authors.initials: Å
authors.lastname: Johansson
authors.affiliation: School of Social and Community Medicine, University of Bristol, Bristol BS8 1TH, UK.|Diamantina Institute, Translational Research Institute, University of Queensland, Brisbane, Queensland QLD 4072, Australia.|MRC Integrative Epidemiology Unit, Bristol BS8 1TH, UK.
authors.forename: John P
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authors.affiliation: Swiss Tropical and Public Health Institute, Basel 4051, Switzerland.|University of Basel, Basel 4001, Switzerland.|Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.|Institute of Environmental Medicine, Karolinska Institutet, Stockholm SE-171 7, Sweden.
authors.forename: Ashish
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Department of Medical Sciences, Uppsala University, Uppsala 751 23, Sweden.
authors.forename: Lars
authors.initials: L
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authors.affiliation: Institute of Environmental Medicine, Karolinska Institutet and Sachs' Children's Hospital, Stockholm SE-171 7, Sweden.
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authors.initials: E
authors.lastname: Melén
authors.affiliation: Busselton Population Medical Research Institute, Busselton, Western Australia 6280, Australia.|Department of Respiratory Medicine, Sir Charles Gairdner Hospital, Western Australia 6009, Australia.|School of Medicine and Pharmacology, The University of Western Australia, Western Australia 6009, Australia.
authors.forename: Arthur W
authors.initials: AW
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authors.affiliation: MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland EH8 9AD, UK.
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authors.affiliation: Generation Scotland, A Collaboration between the University Medical Schools and NHS, Aberdeen, Dundee, Edinburgh, Glasgow EH4 2XU, UK.|Division of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow G12 8TA, Scotland, UK.
authors.forename: Sandosh
authors.initials: S
authors.lastname: Padmanabhan
authors.affiliation: Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku 20520, Finland.|Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku 20014, Finland.
authors.forename: Olli T
authors.initials: OT
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authors.affiliation: Institute of Genetic Epidemiology, Helmholtz Zentrum München German Research Center for Environmental Health, Neuherberg D-85764, Germany.
authors.forename: Janina S
authors.initials: JS
authors.lastname: Ried
authors.affiliation: Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki FI-00014, Finland.|Department of Public Health, University of Helsinki, Helsinki FI-00014, Finland.|Department of Human Genomics, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
authors.forename: Samuli
authors.initials: S
authors.lastname: Ripatti
authors.affiliation: Institute of Epidemiology I, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg D-85764, Germany.|Comprehensive Pneumology Center Munich (CPC-M), Member of the German Center for Lung Research, Munich 85764, Germany.
authors.forename: Holger
authors.initials: H
authors.lastname: Schulz
authors.affiliation: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0SL, UK.
authors.forename: Robert A
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authors.affiliation: University of British Columbia Centre for Heart Lung Innovation, St Paul's Hospital, Vancouver, British Columbia, Canada V6Z 1Y6.|Respiratory Division, University of British Columbia, Vancouver, British Columbia, Canada V6T 1Z4.
authors.forename: Don D
authors.initials: DD
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authors.affiliation: Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9AD, UK.|Alzheimer Scotland Research Centre, University of Edinburgh, Edinburgh EH8 9AD, UK.
authors.forename: John M
authors.initials: JM
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authors.affiliation: KCL Department of Twins Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.
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authors.initials: A
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authors.affiliation: University Medicine Greifswald, Community Medicine, SHIP-Clinical Epidemiological Research, Greifswald 17489, Germany.
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authors.initials: H
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authors.affiliation: Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh EH8 9AD, Scotland, UK.
authors.forename: Sarah H
authors.initials: SH
authors.lastname: Wild
authors.affiliation: MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland EH8 9AD, UK.
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authors.initials: AF
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authors.affiliation: Department of Medical Biology, Faculty of Medicine, University of Split, Split 21000, Croatia.
authors.forename: Tatijana
authors.initials: T
authors.lastname: Zemunik
authors.affiliation: Respiratory Epidemiology and Public Health, Imperial College London, London SW7 2AZ, UK.|MRC Health Protection Agency (HPA) Centre for Environment and Health, Imperial College London, London SW7 2AZ, UK.
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authors.initials: DL
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authors.affiliation: KCL Department of Twins Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.
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authors.initials: TD
authors.lastname: Spector
authors.affiliation: School of Social and Community Medicine, University of Bristol, Bristol BS8 1TH, UK.|Diamantina Institute, Translational Research Institute, University of Queensland, Brisbane, Queensland QLD 4072, Australia.|MRC Integrative Epidemiology Unit, Bristol BS8 1TH, UK.
authors.forename: David M
authors.initials: DM
authors.lastname: Evans
authors.affiliation: Department of Clinical Chemistry, Fimlab Laboratories, Tampere FI-33101, Finland.|Department of Clinical Chemistry, University of Tampere School of Medicine, Tampere FI-33520, Finland.
authors.forename: Terho
authors.initials: T
authors.lastname: Lehtimäki
authors.affiliation: MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland EH8 9AD, UK.
authors.forename: Veronique
authors.initials: V
authors.lastname: Vitart
authors.affiliation: Department of Clinical Physiology, University of Tampere and Tampere University Hospital, Tampere 33521, Finland.
authors.forename: Mika
authors.initials: M
authors.lastname: Kähönen
authors.affiliation: Department of Immunology, Genetics, and Pathology, Biomedical Center, SciLifeLab Uppsala, Uppsala University, Uppsala 751 23, Sweden.
authors.forename: Ulf
authors.initials: U
authors.lastname: Gyllensten
authors.affiliation: Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh EH8 9AD, Scotland, UK.|Centre for Population Health Sciences, Medical School, University of Edinburgh, Edinburgh EH8 9AD, Scotland, UK.
authors.forename: Igor
authors.initials: I
authors.lastname: Rudan
authors.affiliation: Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9AD, UK.|Department of Psychology, University of Edinburgh, Edinburgh EH8 9AD, UK.
authors.forename: Ian J
authors.initials: IJ
authors.lastname: Deary
authors.affiliation: Institute of Epidemiology I, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg D-85764, Germany.|Institute of General Practice, University Hospital Klinikum rechts der Isar, Technische Universität München, Munich D - 81675, Germany.|Institute and Outpatient Clinic for Occupational, Social and Environmental Medicine, Ludwig-Maximilians-Universität, Munich 80539, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Karrasch
authors.affiliation: Swiss Tropical and Public Health Institute, Basel 4051, Switzerland.|University of Basel, Basel 4001, Switzerland.
authors.forename: Nicole M
authors.initials: NM
authors.lastname: Probst-Hensch
authors.affiliation: Institute of Epidemiology I, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg D-85764, Germany.|Comprehensive Pneumology Center Munich (CPC-M), Member of the German Center for Lung Research, Munich 85764, Germany.|University Hospital Munich, Institute and Outpatient Clinic for Occupational, Social and Environmental Medicine, Ludwig-Maximilian University Munich, Munich 80539, Germany.
authors.forename: Joachim
authors.initials: J
authors.lastname: Heinrich
authors.affiliation: Department of Internal Medicine B, Pneumology, Cardiology, Intensive Care, Weaning, Field of Research: Pneumological Epidemiology, University Medicine Greifswald, Greifswald 17489, Germany.
authors.forename: Beate
authors.initials: B
authors.lastname: Stubbe
authors.affiliation: MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland EH8 9AD, UK.|Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh EH8 9AD, Scotland, UK.
authors.forename: James F
authors.initials: JF
authors.lastname: Wilson
authors.affiliation: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0SL, UK.
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Wareham
authors.affiliation: Busselton Population Medical Research Institute, Busselton, Western Australia 6280, Australia.|Department of Pulmonary Physiology and Sleep Medicine, Sir Charles Gairdner Hospital, Western Australia 6009, Australia.|School of Medicine and Pharmacology, The University of Western Australia, Western Australia 6009, Australia.
authors.forename: Alan L
authors.initials: AL
authors.lastname: James
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.|Department of Biostatistics, University of Liverpool, Liverpool L69 7ZX, UK.|Estonian Genome Centre, University of Tartu, Tartu 50090, Estonia.
authors.forename: Andrew P
authors.initials: AP
authors.lastname: Morris
authors.affiliation: Department of Epidemiology and Biostatistics, MRC -PHE Centre for Environment &Health, School of Public Health, Imperial College London, London SW7 2AZ, UK.|Center for Life Course Epidemiology, Faculty of Medicine, P.O.Box 5000, FI-90014 University of Oulu, Oulu FI-01051, Finland.|Biocenter Oulu, P.O.Box 5000, Aapistie 5A, FI-90014 University of Oulu, Oulu FI-01051, Finland.|Unit of Primary Care, Oulu University Hospital, Kajaanintie 50, P.O.Box 20, FI-90220 Oulu, 90029 OYS, Finland.
authors.forename: Marjo-Riitta
authors.initials: MR
authors.lastname: Jarvelin
authors.affiliation: Generation Scotland, A Collaboration between the University Medical Schools and NHS, Aberdeen, Dundee, Edinburgh, Glasgow EH4 2XU, UK.
authors.forename: Caroline
authors.initials: C
authors.lastname: Hayward
authors.affiliation: Division of Respiratory Medicine, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2RD, UK.
authors.forename: Ian
authors.initials: I
authors.lastname: Sayers
authors.affiliation: Population Health Research Institute, St George's, University of London, Cranmer Terrace, London WC1B 5DN, UK.
authors.forename: David P
authors.initials: DP
authors.lastname: Strachan
authors.affiliation: Division of Respiratory Medicine, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2RD, UK.
authors.forename: Ian P
authors.initials: IP
authors.lastname: Hall
authors.affiliation: Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester LE1 7RH, UK.|National Institute for Health Research (NIHR) Leicester Respiratory Biomedical Research Unit, Glenfield Hospital, Leicester LE3 9QP, UK.
authors.forename: Martin D
authors.initials: MD
authors.lastname: Tobin
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005541:Forced Expiratory Volume; D055106:Genome-Wide Association Study; D006801:Humans; D008168:Lung / Q000503:physiopathology*; D008171:Lung Diseases / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics; D055815:Young Adult