ArticleAmerican journal of physiology. Lung cellular and molecular physiology2021
A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.
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Article in American journal of physiology. Lung cellular and molecular physiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11citing papers in PubMed
3.8field-weighted citation impact, top 6% of its field
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Who cites it
11 citing papers in PubMed, 26 citations in OpenAlex.
- Integrative multi-omic analyses identify major axes of heterogeneity in chronic obstructive pulmonary disease and uncover their molecular contributors.medRxiv : the preprint server for health sciences · 2026Article
- Proteomic networks and related genetic variants associated with smoking and chronic obstructive pulmonary disease.BMC genomics · 2024Article
- Genome-wide association study identifies novel susceptible loci and evaluation of polygenic risk score for chronic obstructive pulmonary disease in a Taiwanese population.BMC genomics · 2024Article
- Segregation of nascent GPCRs in the ER-to-Golgi transport by CCHCR1 via direct interaction.Journal of cell science · 2024Article
- Genetic Variants in the Adhesive G Protein-Coupled Receptor ADGRG6 are Associated with Increased Susceptibility to COPD in the Elderly Han Chinese Population of Southern China.International journal of chronic obstructive pulmonary disease · 2024Article
- Genetic Variants of Adrenoceptors.Handbook of experimental pharmacology · 2024Review
- TNS1 and NRXN1 Genes Interacting With Early-Life Smoking Exposure in Asthma-Plus-Eczema Susceptibility.Allergy, asthma & immunology research · 2023Article
- Alpha-1-antitrypsin antagonizes COVID-19: a review of the epidemiology, molecular mechanisms, and clinical evidence.Biochemical Society transactions · 2023Review
- A genome-wide association study identifies distinct variants associated with pulmonary function among European and African ancestries from the UK Biobank.Communications biology · 2023Article
- Genetics of chronic obstructive pulmonary disease: understanding the pathobiology and heterogeneity of a complex disorder.The Lancet. Respiratory medicine · 2022Review
- One genome, many cell states: epigenetic control of innate immunity.Current opinion in immunology · 2022Review
Corrections and comments
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Authors and funding
33 authors at 15 institutions in 7 countries.
Matthew MollChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Victoria E JacksonDepartment of Health Sciences, University of Leicester, Leicester, United Kingdom.ORCID 0000-0002-9758-9784
Bing YuSchool of Public Health, University of Texas Health Science Center, Houston, Texas.
Megan L GroveSchool of Public Health, University of Texas Health Science Center, Houston, Texas.
Stephanie J LondonEpidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services Research, Research Triangle Park, Durham, North Carolina.ORCID 0000-0003-4911-5290
Sina A GharibCenter for Lung Biology, Division of Pulmonary and Critical Care Medicine, Department of Medicine, University of Washington, Seattle, Washington.ORCID 0000-0002-2480-4367
Traci M BartzDepartment of Biostatistics, University of Washington, Seattle, Washington.
Colleen M SitlaniCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington.
Josée DupuisDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts.ORCID 0000-0003-2871-3603
George T O'ConnorDivision of Pulmonary, Allergy, Sleep, and Critical Care Medicine, Department of Medicine, Pulmonary Center, Boston University School of Medicine, Boston Medical Center, Boston, Massachusetts.
Hanfei XuDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts.
Patricia A CassanoDivision of Nutritional Sciences, Cornell University, Ithaca, New York.
Bonnie Kaufmann PatchenDivision of Nutritional Sciences, Cornell University, Ithaca, New York.
Woo Jin KimDepartment of Internal Medicine, Kangwon National University, Chuncheon, South Korea.ORCID 0000-0003-2927-370X
Jinkyeong ParkChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Kun Hee KimDepartment of Convergence Medicine and Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Buhm HanDepartment of Medicine, Seoul National University College of Medicine, Seoul, South Korea.
R Graham BarrDepartment of Medicine, Columbia University Medical Center, New York, New York.
Ani ManichaikulCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia.
Jennifer N NguyenCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia.
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia.
Lies LahousseDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Natalie TerzikhanDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Guy BrusselleDepartment of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0001-7021-8505
Phuwanat SakornsakolpatDepartment of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Jiangyuan LiuChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.ORCID 0000-0001-8467-857X
Christopher J BenwayChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.ORCID 0000-0002-8856-0146
Ian P HallNIHR Nottingham Biomedical Research Centre, Queen's Medical Centre, Nottingham, United Kingdom.
Martin D TobinDepartment of Health Sciences, University of Leicester, Leicester, United Kingdom.
Louise V WainDepartment of Health Sciences, University of Leicester, Leicester, United Kingdom.
Edwin K SilvermanChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Michael H ChoChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Brian D HobbsChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.ORCID 0000-0001-9564-0745
Brigham and Women's Hospital · USBoston University · USErasmus MC · NLUniversity of Leicester · GBUniversity of Virginia · USUniversity of Washington · USCornell University · USThe University of Texas Health Science Center at Houston · USColumbia University Irving Medical Center · USKangwon National University · KRNational Institutes of Health · USQueen's Medical Centre · GBSeoul National University · KRSiriraj Hospital · THUlsan College · KR
Funding
Genetic Epidemiology of COPDU01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2007 to 2021
$56.9MMetabolomic signatures of empysema and COPD progression in the COPDGene cohortR01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2012 to 2016
$31.1MRespiratory Computational Discovery CoreP01HL114501 · NHLBI · WEILL MEDICAL COLL OF CORNELL UNIV · PI SILVERMAN, EDWIN K · 2013 to 2025
$24.9M(2 of 2) Genetic Epidemiology of COPDR01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2012 to 2016
$18.9MSYSTEMS APPROACHES TO THE EPIDEMIOLOGY, GENETICS AND GENOMICS OF LUNG DISEASEST32HL007427 · NHLBI · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI DAWN L DEMEO, Edwin K Silverman · 1985 to 2026
$13.6MGenetic and Genomic Characterization of the Occurrence and Progression of Interstitial Lung AbnormalitiesR01HL135142 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MICHAEL H. CHO, GARY MATTHEW HUNNINGHAKE · 2017 to 2026
$7.7MNUTRITION TRAININGT32DK007158 · NIDDK · CORNELL UNIVERSITY ITHACA · PI PATRICIA A CASSANO, Julia L. Finkelstein · 1986 to 2026
$7.4MCOPD Susceptibility, Heterogeneity, and Progression: Proteomics and GeneticsR01HL133135 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MORITZ, ROBERT L, SILVERMAN, EDWIN K · 2017 to 2025
$7.2MGenetics and Environment in Adult Respiratory, Allergic and Cardiac diseaseZIAES043012 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI LONDON, STEPHANIE · 2009 to 2025
$6.4MGenetic and Functional Dissection of a Cluster of COPD GWAS Signals on Chromosome 4qR01HL147148 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CHO, MICHAEL H., SILVERMAN, EDWIN K · 2019 to 2022
$3.5MIdentifying functional variants in COPD GWAS lociR01HL137927 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CHO, MICHAEL H., SILVERMAN, EDWIN K · 2017 to 2020
$3.5MMulti-omic Subtyping of Chronic Obstructive Pulmonary DiseaseK08HL136928 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HOBBS, BRIAN DANIEL · 2017 to 2021
$864kDepartment of HealthIntramural NIH HHS Z01 ES043012NHLBI NIH HHS K08 HL136928NHLBI NIH HHS P01 HL114501NHLBI NIH HHS R01 HL089856NHLBI NIH HHS R01 HL089897NHLBI NIH HHS R01 HL133135NHLBI NIH HHS R01 HL135142NHLBI NIH HHS R01 HL137927NHLBI NIH HHS R01 HL147148NHLBI NIH HHS T32 HL007427NHLBI NIH HHS U01 HL089897NIDDK NIH HHS T32 DK007158Wellcome TrustWellcome Trust WT202849/Z/16/Z
Abstract
Genome-wide association studies (GWASs) have identified regions associated with chronic obstructive pulmonary disease (COPD). GWASs of other diseases have shown an approximately 10-fold overrepresentation of nonsynonymous variants, despite limited exonic coverage on genotyping arrays. We hypothesized that a large-scale analysis of coding variants could discover novel genetic associations with COPD, including rare variants with large effect sizes. We performed a meta-analysis of exome arrays from 218,399 controls and 33,851 moderate-to-severe COPD cases. All exome-wide significant associations were present in regions previously identified by GWAS. We did not identify any novel rare coding variants with large effect sizes. Within GWAS regions on chromosomes 5q, 6p, and 15q, four coding variants were conditionally significant (
Indexed as
Genetic MarkersGenetic Predisposition to DiseaseGenome-Wide Association StudyPolymorphism, Single NucleotideExomeGene Expression RegulationHumansMeta-Analysis as TopicPulmonary Disease, Chronic ObstructiveGenetic Markerschronic obstructive pulmonary diseaseexomeexonfunctionalgenomics
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.