Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.
作者:
Victoria E,Jackson [1]
;
Ioanna,Ntalla [2]
;
Ian,Sayers [3]
;
Richard,Morris [4]
;
Peter,Whincup [5]
;
Juan-Pablo,Casas [6]
;
Antoinette,Amuzu [7]
;
Minkyoung,Choi [7]
;
Caroline,Dale [7]
;
Meena,Kumari [8]
;
Jorgen,Engmann [9]
;
Noor,Kalsheker [10]
;
Sally,Chappell [10]
;
Tamar,Guetta-Baranes [10]
;
Tricia M,McKeever [11]
;
Colin N A,Palmer [12]
;
Roger,Tavendale [12]
;
John W,Holloway [13]
;
Avan A,Sayer [14]
;
Elaine M,Dennison [15]
;
Cyrus,Cooper [14]
;
Mona,Bafadhel [16]
;
Bethan,Barker [17]
;
Chris,Brightling [17]
;
Charlotte E,Bolton [18]
;
Michelle E,John [18]
;
Stuart G,Parker [19]
;
Miriam F,Moffat [20]
;
Andrew J,Wardlaw [17]
;
Martin J,Connolly [21]
;
David J,Porteous [22]
;
Blair H,Smith [23]
;
Sandosh,Padmanabhan [24]
;
Lynne,Hocking [25]
;
Kathleen E,Stirrups [26]
;
Panos,Deloukas [27]
;
David P,Strachan [5]
;
Ian P,Hall [3]
;
Martin D,Tobin [28]
;
Louise V,Wain [1]
作者单位:
Department of Health Sciences, University of Leicester, Leicester, UK.
[1]
Department of Health Sciences, University of Leicester, Leicester, UK William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
[2]
Division of Respiratory Medicine, University of Nottingham, Queen's Medical Centre, Nottingham, UK.
[3]
School of Social & Community Medicine, University of Bristol, Bristol, UK Department of Primary Care & Population Health, UCL, London, UK.
[4]
Population Health Research Institute, St George's, University of London, London, UK.
[5]
University College London, Farr Institute of Health Informatics, London, UK Cochrane Heart Group, London, UK.
[6]
Department of Non-communicable Disease Epidemiology, Faculty of Epidemiology and Population Health, London School of Hygiene & Tropical Medicine, London, UK.
[7]
ISER, University of Essex, Colchester, Essex, UK Department of Epidemiology and Public Health, UCL, London, UK.
[8]
Institute of Cardiovascular Science, UCL, London, UK.
[9]
School of Life Sciences, University of Nottingham, Nottingham, UK.
[10]
Division of Epidemiology and Public Health, Nottingham City Hospital, University of Nottingham, Nottingham, UK.
[11]
Cardiovascular and Diabetes Medicine, School of Medicine, University of Dundee, Dundee, UK.
[12]
Human Development & Health, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK NIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton General Hospital, Southampton, UK.
[13]
MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton General Hospital, Southampton, UK NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton General Hospital, Southampton, UK.
[14]
MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton General Hospital, Southampton, UK Victoria University, Wellington, New Zealand.
[15]
Respiratory Medicine Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
[16]
Institute for Lung Health, Department of Infection, Immunity and Inflammation, University of Leicester, Leicester, UK National Institute for Health Research Respiratory Biomedical Research Unit, Glenfield Hospital, Leicester, UK.
[17]
Nottingham Respiratory Research Unit, University of Nottingham, City Hospital Campus, Nottingham, UK.
[18]
Institute for Ageing and Health, Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne, UK.
[19]
Department of Molecular Genetics and Genomics, National Heart and Lung Institute, Imperial College London, London, UK.
[20]
Freemasons' Department of Geriatric Medicine, University of Auckland, New Zealand.
[21]
Generation Scotland, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
[22]
Division of Population Health Sciences, University of Dundee, Dundee, UK.
[23]
Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK.
[24]
Institute of Medical Sciences, University of Aberdeen, Aberdeen, UK.
[25]
William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK Department of Haematology, University of Cambridge, Cambridge, UK.
[26]
William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
[27]
Department of Health Sciences, University of Leicester, Leicester, UK National Institute for Health Research Respiratory Biomedical Research Unit, Glenfield Hospital, Leicester, UK.
[28]
主题词
老年人(Aged);气道阻塞(Airway Obstruction);女(雌)性(Female);用力呼气量(Forced Expiratory Volume);全基因组关联研究(Genome-Wide Association Study);基因型(Genotype);人类(Humans);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);男(雄)性(Male);中年人(Middle Aged);核苷酸基转移酶类(Nucleotidyltransferases);多态性, 单核苷酸(Polymorphism, Single Nucleotide);肺疾病, 慢性阻塞性(Pulmonary Disease, Chronic Obstructive);危险性评估(Risk Assessment);舍平类(Serpins);吸烟(Smoking);硫基转移酶类(Sulfurtransferases)
DOI
10.1136/thoraxjnl-2015-207876
PMID
26917578
发布时间
2022-01-29
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