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Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.
Zhao, Xutong; Qiao, Dandi; Yang, Chaojie; Kasela, Silva; Kim, Wonji; Ma, Yanlin; Shrine, Nick; Batini, Chiara; Sofer, Tamar; Taliun, Sarah A Gagliano; Sakornsakolpat, Phuwanat; Balte, Pallavi P; Prokopenko, Dmitry; Yu, Bing; Lange, Leslie A; Dupuis, Josée; Cade, Brian E; Lee, Jiwon; Gharib, Sina A; Daya, Michelle; Laurie, Cecelia A; Ruczinski, Ingo; Cupples, L Adrienne; Loehr, Laura R; Bartz, Traci M; Morrison, Alanna C; Psaty, Bruce M; Vasan, Ramachandran S; Wilson, James G; Taylor, Kent D; Durda, Peter; Johnson, W Craig; Cornell, Elaine; Guo, Xiuqing; Liu, Yongmei; Tracy, Russell P; Ardlie, Kristin G; Aguet, François; VanDenBerg, David J; Papanicolaou, George J; Rotter, Jerome I; Barnes, Kathleen C; Jain, Deepti; Nickerson, Deborah A; Muzny, Donna M; Metcalf, Ginger A; Doddapaneni, Harshavardhan; Dugan-Perez, Shannon; Gupta, Namrata; Gabriel, Stacey.
Afiliação
  • Zhao X; Center for Statistical Genetics, and Department of Biostatistics, University of Michigan, Ann Arbor, MI, 48109, USA.
  • Qiao D; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
  • Yang C; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, 22908, USA.
  • Kasela S; New York Genome Center, New York, NY, 10013, USA.
  • Kim W; Department of Systems Biology, Columbia University, New York, NY, 10032, USA.
  • Ma Y; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
  • Shrine N; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, 22908, USA.
  • Batini C; Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, United Kingdom.
  • Sofer T; Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, United Kingdom.
  • Taliun SAG; Department of Medicine, Harvard Medical School, Boston, MA, 02115, USA.
  • Sakornsakolpat P; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, 02115, USA.
  • Balte PP; Center for Statistical Genetics, and Department of Biostatistics, University of Michigan, Ann Arbor, MI, 48109, USA.
  • Prokopenko D; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
  • Yu B; Department of Medicine, Columbia University Medical Center, New York, NY, 10032, USA.
  • Lange LA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.
  • Dupuis J; Department of Epidemiology, Human Genetics & Environmental Sciences, UTHealth School of Public Health, Houston, TX, 77030, USA.
  • Cade BE; Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado School of Medicine Anschutz Medical Campus, Aurora, CO, 80045, USA.
  • Lee J; Department of Biostatistics, Boston University School of Public Health, Boston, MA, 02118, USA.
  • Gharib SA; Department of Medicine, Harvard Medical School, Boston, MA, 02115, USA.
  • Daya M; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, 02115, USA.
  • Laurie CA; Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, 02115, USA.
  • Ruczinski I; Division of Pulmonary, Critical Care and Sleep Medicine, University of Washington, Seattle, WA, 98109, USA.
  • Cupples LA; Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado School of Medicine Anschutz Medical Campus, Aurora, CO, 80045, USA.
  • Loehr LR; Department of Biostatistics, University of Washington, Seattle, WA, 98195, USA.
  • Bartz TM; Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, 21205, USA.
  • Morrison AC; Department of Biostatistics, Boston University School of Public Health, Boston, MA, 02118, USA.
  • Psaty BM; Boston University and the National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, 01702, USA.
  • Vasan RS; Department of Medicine, UNC School of Medicine, Chapel Hill, NC, 27599, USA.
  • Wilson JG; Department of Biostatistics, University of Washington, Seattle, WA, 98195, USA.
  • Taylor KD; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA.
  • Durda P; Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Services, University of Washington, Seattle, WA, 98101, USA.
  • Johnson WC; Kaiser Permanente Washington Health Research Institute, Seattle, WA, 98101, USA.
  • Cornell E; Boston University and the National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, 01702, USA.
  • Guo X; Department of Preventive Medicine and Epidemiology, Boston University School of Medicine and Public Health, Boston, MA, 02118, USA.
  • Liu Y; Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS, 39216, USA.
  • Tracy RP; The Institute for Translational Genomics and Population Sciences, The Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA.
  • Ardlie KG; Department of Pathology and Laboratory Medicine, Robert Larner, M.D. College of Medicine, University of Vermont, Burlington, VT, 05405, USA.
  • Aguet F; Department of Biostatistics, University of Washington, Seattle, WA, 98195, USA.
  • VanDenBerg DJ; Department of Pathology and Laboratory Medicine, Robert Larner, M.D. College of Medicine, University of Vermont, Burlington, VT, 05405, USA.
  • Papanicolaou GJ; The Institute for Translational Genomics and Population Sciences, The Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA.
  • Rotter JI; Department of Medicine, Division of Cardiology, Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, 27701, USA.
  • Barnes KC; Department of Pathology and Laboratory Medicine, Robert Larner, M.D. College of Medicine, University of Vermont, Burlington, VT, 05405, USA.
  • Jain D; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
  • Nickerson DA; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
  • Muzny DM; Department of Preventive Medicine, University of Southern California, Los Angeles, CA, 90033, USA.
  • Metcalf GA; Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
  • Doddapaneni H; The Institute for Translational Genomics and Population Sciences, The Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA.
  • Dugan-Perez S; Division of Biomedical Informatics and Personalized Medicine, Department of Medicine, University of Colorado School of Medicine Anschutz Medical Campus, Aurora, CO, 80045, USA.
  • Gupta N; Department of Biostatistics, University of Washington, Seattle, WA, 98195, USA.
  • Gabriel S; Department of Genome Sciences, University of Washington, Seattle, WA, 98195, USA.
Nat Commun ; 11(1): 5182, 2020 10 14.
Article em En | MEDLINE | ID: mdl-33057025
ABSTRACT
Chronic obstructive pulmonary disease (COPD), diagnosed by reduced lung function, is a leading cause of morbidity and mortality. We performed whole genome sequence (WGS) analysis of lung function and COPD in a multi-ethnic sample of 11,497 participants from population- and family-based studies, and 8499 individuals from COPD-enriched studies in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program. We identify at genome-wide significance 10 known GWAS loci and 22 distinct, previously unreported loci, including two common variant signals from stratified analysis of African Americans. Four novel common variants within the regions of PIAS1, RGN (two variants) and FTO show evidence of replication in the UK Biobank (European ancestry n ~ 320,000), while colocalization analyses leveraging multi-omic data from GTEx and TOPMed identify potential molecular mechanisms underlying four of the 22 novel loci. Our study demonstrates the value of performing WGS analyses and multi-omic follow-up in cohorts of diverse ancestry.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenômenos Fisiológicos Respiratórios / Negro ou Afro-Americano / Doença Pulmonar Obstrutiva Crônica / Loci Gênicos / Sequenciamento Completo do Genoma Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenômenos Fisiológicos Respiratórios / Negro ou Afro-Americano / Doença Pulmonar Obstrutiva Crônica / Loci Gênicos / Sequenciamento Completo do Genoma Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos