ArticleeLife2019
Identification of an emphysema-associated genetic variant near
Open access · goldAbstract read
In one paragraph
Article in eLife, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
3.1field-weighted citation impact, top 8% of its field
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- New approaches to uncover COPD pathobiology and develop therapies.JCI insight · 2026Review
- HHIP protein interactions in lung cells provide insight into COPD pathogenesis.Human molecular genetics · 2025Article
- Characterisation of a COPD-associated nephronectin (The European respiratory journal · 2025Article
- Molecular Characterization of the Distal Lung: Novel Insights from Chronic Obstructive Pulmonary Disease Omics.American journal of respiratory and critical care medicine · 2024Article
- Breathing new life into the study of COPD with genes identified from genome-wide association studies.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- scMoresDB: A comprehensive database of single-cell multi-omics data for human respiratory system.iScience · 2024Article
- Identification of a distal enhancer regulating hedgehog interacting protein gene in human lung epithelial cells.EBioMedicine · 2024Article
- Spatial Transcriptomics Resolve an Emphysema-Specific Lymphoid Follicle B Cell Signature in Chronic Obstructive Pulmonary Disease.American journal of respiratory and critical care medicine · 2024Article
- Animal models: An essential tool to dissect the heterogeneity of chronic obstructive pulmonary disease.Journal of translational internal medicine · 2023Article
- Review
- Genetics of chronic obstructive pulmonary disease: understanding the pathobiology and heterogeneity of a complex disorder.The Lancet. Respiratory medicine · 2022Review
- Article
- Role of visual assessment of chronic obstructive pulmonary disease on chest CT: beauty is in the eye of the beholder.Journal of thoracic disease · 2021Article
- Connecting COPD GWAS Genes: FAM13A Controls TGFβ2 Secretion by Modulating AP-3 Transport.American journal of respiratory cell and molecular biology · 2021Article
- Observational
- Progress and Research Priorities in Imaging Genomics for Heart and Lung Disease: Summary of an NHLBI Workshop.Circulation. Cardiovascular imaging · 2021Article
- Dysregulated Cell Signaling in Pulmonary Emphysema.Frontiers in medicine · 2021Review
- eQTL Colocalization Analyses Identify NTN4 as a Candidate Breast Cancer Risk Gene.American journal of human genetics · 2020Article
- Lung Development Genes and Adult Lung Function.American journal of respiratory and critical care medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 4 institutions in 1 country.
Margaret M ParkerChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, United States.
Yuan HaoChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, United States.
Feng GuoChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, United States.
Betty PhamChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, United States.
Robert ChaseChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, United States.
John PlatigChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, United States.
Michael H ChoChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, United States.
Craig P HershChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, United States.
Victor J ThannickalDivision of Pulmonary, Allergy and Critical Care, Department of Medicine, School of Medicine, University of Alabama at Birmingham, Birmingham, United States.
James CrapoDivision of Pulmonary, Critical Care and Sleep Medicine, National Jewish Health, Denver, United States.
George WashkoDivision of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, United States.
Scott H RandellMarsico Lung Institute, The University of North Carolina at Chapel Hill, Chapel Hill, United States.
Edwin K SilvermanChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, United States.
Raúl San José EstéparApplied Chest Imaging Laboratory, Brigham and Women's Hospital, Boston, United States.
Xiaobo ZhouChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, United States.
Peter J CastaldiChanning Division of Network Medicine, Brigham and Women's Hospital, Boston, United States.ORCID 0000-0001-9920-4713
Brigham and Women's Hospital · USNational Jewish Health · USUniversity of Alabama at Birmingham · USUniversity of North Carolina at Chapel Hill · US
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
$31.1MVector CoreP30DK065988 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Scott H Randell · 2004 to 2026
$26.5MRespiratory Computational Discovery CoreP01HL114501 · NHLBI · WEILL MEDICAL COLL OF CORNELL UNIV · PI CHOI, MARY E · 2013 to 2025
$24.9MGenetic Epidemiology of COPDU01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2007 to 2021
$20.7M(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
$13.6MSystems Biology of Airway DiseaseP01HL132825 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI WEISS, SCOTT T · 2016 to 2020
$12.6MUsing Integrative Genomics To Identify and Characterize Emphysema-Associated eQTLR01HL124233 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CASTALDI, PETER · 2014 to 2024
$7.1MIdentifying Genetic Determinants of Severe, Early-Onset COPDR01HL113264 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CHO, MICHAEL H., SILVERMAN, EDWIN K · 2012 to 2016
$6.0MSYSTEMS GENOMICS OF THE ASTHMA-COPD OVERLAP SYNDROMER01HL130512 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HERSH, CRAIG P · 2016 to 2019
$3.5MINTEGRATIVE GENOMICS OF CLINICAL SUBTYPES IN COPDGENER01HL125583 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HERSH, CRAIG P · 2015 to 2018
$3.5MNHLBI NIH HHS P01105339NHLBI NIH HHS P01 HL114501NHLBI NIH HHS P01HL114501NHLBI NIH HHS P01 HL132825NHLBI NIH HHS R01 HL089856NHLBI NIH HHS R01HL089856NHLBI NIH HHS R01 HL089897NHLBI NIH HHS R01HL089897NHLBI NIH HHS R01 HL113264NHLBI NIH HHS R01HL113264NHLBI NIH HHS R01 HL116931NHLBI NIH HHS R01 HL124233NHLBI NIH HHS R01 HL125583NHLBI NIH HHS R01 HL126596NHLBI NIH HHS R01 HL130512NHLBI NIH HHS T32 HL007427NHLBI NIH HHS U01 HL089856NHLBI NIH HHS U01 HL089897NIDDK NIH HHS P30 DK065988NIEHS NIH HHS R25 ES011080
Abstract
Murine studies have linked TGF-β signaling to emphysema, and human genome-wide association studies (GWAS) studies of lung function and COPD have identified associated regions near genes in the TGF-β superfamily. However, the functional regulatory mechanisms at these loci have not been identified. We performed the largest GWAS of emphysema patterns to date, identifying 10 GWAS loci including an association peak spanning a 200 kb region downstream from
Indexed as
Gene Expression RegulationGenetic LociGenetic Predisposition to DiseaseAgedAged, 80 and overEmphysemaFibroblastsGenome-Wide Association StudyHumansLungMiddle AgedTransforming Growth Factor beta2United StatesTGFB2 protein, humanTransforming Growth Factor beta2bioinformaticsCOPDemphysemageneticsgenome-wide association studygenomicshumanhuman biologymedicineTGF-beta signalingtranscriptomics
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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.