دورية أكاديمية
Genome Wide Association Study of Preserved Ratio Impaired Spirometry (PRISm).
| العنوان: | Genome Wide Association Study of Preserved Ratio Impaired Spirometry (PRISm). |
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| المؤلفون: | Higbee DH; MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol, UK.; Academic Respiratory Unit, University of Bristol, Southmead Hospital, Bristol, UK., Lirio A; Department of Population Health Sciences, University of Leicester, Leicester, UK., Hamilton F; MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol, UK., Granell R; MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol, UK., Wyss AB; Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC., London SJ; Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC., Bartz TM; Cardiovascular Health Research Unit, Departments of Biostatistics and Medicine, University of Washington, Seattle, WA., Gharib SA; Computational Medicine Core, Center for Lung Biology, UW Medicine Sleep Center, Department of Medicine, University of Washington, Seattle, WA., Cho MH; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA.; Harvard Medical School, Boston, MA., Wan E; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA.; Harvard Medical School, Boston, MA.; Pulmonary and Critical Care Section, Department of Medicine, VA Boston Healthcare System, Boston, MA, USA., Silverman E; Pulmonary and Critical Care Section, Department of Medicine, VA Boston Healthcare System, Boston, MA, USA., Crapo JD; Division of Pulmonary, Critical Care and Sleep Medicine, National Jewish Health, Denver, Colorado., Lominchar J; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen., Hansen T; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen., Grarup N; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen., Dantoft T; Center for Clinical Research and Prevention, Bispebjerg and Frederiksberg Hospital., Kårhus L; Center for Clinical Research and Prevention, Bispebjerg and Frederiksberg Hospital., Linneberg A; Center for Clinical Research and Prevention, Bispebjerg and Frederiksberg Hospital., O'Connor GT; Pulmonary Center, School of Medicine, Boston University, Boston, Massachusetts.; Division of Pulmonary, Allergy, Sleep, and Critical Care Medicine, Boston Medical Center, Boston, Massachusetts., Dupuis J; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montreal, Quebec, Canada., Xu H; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts., De Vries MM; University of Groningen, University Medical Center Groningen, Department of Epidemiology, Groningen, The Netherlands.; University of Groningen, University Medical Center Groningen, Groningen Research Institute for Asthma and COPD, Groningen, The Netherlands., Hu X; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA., Rich SS; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA., Barr RG; Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY., Manichaikul A; Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA., Wijnant SRA; Department of Bioanalysis, Ghent University, Ghent, Belgium.; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium., Brusselle GG; Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.; Department of Epidemiology, Department of Respiratory Medicine, Erasmus MC, Rotterdam, the Netherlands., Lahouse L; Department of Bioanalysis, Ghent University, Ghent, Belgium.; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands., Li X; Centre for Heart Lung Innovation, University of British Columbia, St. Paul's Hospital, Vancouver, BC, Canada., Hernández Cordero AI; Centre for Heart Lung Innovation, University of British Columbia, St. Paul's Hospital, Vancouver, BC, Canada., Obeidat M; Centre for Heart Lung Innovation, University of British Columbia, St. Paul's Hospital, Vancouver, BC, Canada., Sin DD; Centre for Heart Lung Innovation, University of British Columbia, St. Paul's Hospital, Vancouver, BC, Canada.; Division of Respiratory Medicine, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Harris SE; Lothian Birth Cohorts, Department of Psychology, University of Edinburgh, Edinburgh, UK., Redmond P; Lothian Birth Cohorts, Department of Psychology, University of Edinburgh, Edinburgh, UK., Taylor AM; Lothian Birth Cohorts, Department of Psychology, University of Edinburgh, Edinburgh, UK., Cox SR; Lothian Birth Cohorts, Department of Psychology, University of Edinburgh, Edinburgh, UK., Williams AT; Department of Population Health Sciences, University of Leicester, Leicester, UK., Shrine N; Department of Population Health Sciences, University of Leicester, Leicester, UK., John C; Department of Population Health Sciences, University of Leicester, Leicester, UK., Guyatt AL; Department of Population Health Sciences, University of Leicester, Leicester, UK., Hall IP; University of Nottingham and NIHR Nottingham Biomedical Research Centre., Smith GD; MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol, UK., Tobin MD; Department of Population Health Sciences, University of Leicester, Leicester, UK.; Leicester NIHR Biomedical Research Centre, Leicester, UK.; joint senior authors., Dodd JW; MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol, UK james.dodd@bristol.ac.uk.; Academic Respiratory Unit, University of Bristol, Southmead Hospital, Bristol, UK.; joint senior authors. |
| المصدر: | The European respiratory journal [Eur Respir J] 2023 Dec 22. Date of Electronic Publication: 2023 Dec 22. |
| Publication Model: | Ahead of Print |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: European Respiratory Society Country of Publication: England NLM ID: 8803460 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-3003 (Electronic) Linking ISSN: 09031936 NLM ISO Abbreviation: Eur Respir J Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Sheffield, United Kingdom : European Respiratory Society Original Publication: Copenhagen : Published jointly by the Society and Munksgaard, 1988- |
| مستخلص: | Background: Preserved Ratio Impaired Spirometry (PRISm) is defined as FEV Methods: We undertook a genome-wide association study (GWAS) of PRISm in UK Biobank participants (Stage 1), and selected SNPs reaching genome-wide significance for replication in 13 cohorts (Stage 2). A combined meta-analysis of Stage 1 and Stage 2 was done to determine top SNPs. We used cross-trait Linkage Disequilibrium score regression to estimate genome-wide genetic correlation between PRISM and pulmonary and extra-pulmonary traits. Phenome-wide association studies of top SNPs was performed. Results: 22 signals reached significance in the joint meta-analysis, including four signals novel for lung function. A strong genome-wide genetic correlation (r Discussion: This is the first GWAS to successfully identify SNPs associated with PRISm. Four of the signals; rs7652391 (nearest gene MECOM ), rs9431040 ( HLX ), rs62018863 ( TMEM114 ) and rs185937162 ( HLA-B ) have not been described in association with lung function before, demonstrating the utility of using different lung function phenotypes in GWAS. Genetic factors associated with PRISm are strongly correlated with risk of both other lung diseases and extra-pulmonary co-morbidity. (Copyright ©The authors 2023.) |
| تواريخ الأحداث: | Date Created: 20231214 Latest Revision: 20231222 |
| رمز التحديث: | 20231223 |
| DOI: | 10.1183/13993003.00337-2023 |
| PMID: | 38097206 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1399-3003 |
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| DOI: | 10.1183/13993003.00337-2023 |