SynthesisPloS one2014
Susceptibility to chronic mucus hypersecretion, a genome wide association study.
Erratum issuedOpen access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 2 pooled it
3.4field-weighted citation impact, top 8% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Dissecting the genetics of chronic mucus hypersecretion in smokers with and without COPD.The European respiratory journal · 2015Pooled it
- Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.Respiratory research · 2014Pooled it
- Genome-wide association study of chronic sputum production implicates loci involved in mucus production and infection.The European respiratory journal · 2023Article
- Genetic regulators of sputum mucin concentration and their associations with COPD phenotypes.PLoS genetics · 2023Article
- Structural airway imaging metrics are differentially associated with persistent chronic bronchitis.Thorax · 2021Article
- Article
- ZBTB7B (ThPOK) Is Required for Pathogenesis of Cerebral Malaria and Protection against Pulmonary Tuberculosis.Infection and immunity · 2020Article
- Association among genetic polymorphisms of GSTP1, HO-1, and SOD-3 and chronic obstructive pulmonary disease susceptibility.International journal of chronic obstructive pulmonary disease · 2019Article
- Cohort Profile Update: The Doetinchem Cohort Study 1987-2017: lifestyle, health and chronic diseases in a life course and ageing perspective.International journal of epidemiology · 2017Article
- Identification ofGenetics · 2017Article
- Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease.Respiratory research · 2017Article
- Molecular mechanisms underlying variations in lung function: a systems genetics analysis.The Lancet. Respiratory medicine · 2015Article
- The chronic bronchitis phenotype in chronic obstructive pulmonary disease: features and implications.Current opinion in pulmonary medicine · 2015Review
- Correction: Susceptibility to chronic mucus hypersecretion, a genome wide association study.PloS one · 2015Article
- COPD: balancing oxidants and antioxidants.International journal of chronic obstructive pulmonary disease · 2015Review
- Integrative genomics of chronic obstructive pulmonary disease.Biochemical and biophysical research communications · 2014Review
Corrections and comments
- Erratum issuedCorrection: Susceptibility to chronic mucus hypersecretion, a genome wide association study.2015 · Obeidat, M A [corrected to Obeidat, Ma'en]
Authors and funding
55 authors at 20 institutions in 10 countries.
Akkelies E DijkstraUniversity of Groningen, University Medical Center Groningen, Department of Pulmonology, Groningen, the Netherlands; University of Groningen, University Medical Center Groningen, GRIAC research institute, Groningen, the Netherlands.
Joanna SmolonskaUniversity of Groningen, University Medical Center Groningen, GRIAC research institute, Groningen, the Netherlands; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
Maarten van den BergeUniversity of Groningen, University Medical Center Groningen, Department of Pulmonology, Groningen, the Netherlands; University of Groningen, University Medical Center Groningen, GRIAC research institute, Groningen, the Netherlands.
Ciska WijmengaUniversity of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
Pieter ZanenUniversity of Utrecht, University Medical Center Utrecht, Department of Pulmonology, Utrecht, the Netherlands.
Marjan A LuingeUniversity of Groningen, University Medical Center Groningen, Department of Pathology and Medical Biology, Groningen, the Netherlands.
Mathieu PlatteelUniversity of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
Jan-Willem LammersUniversity of Utrecht, University Medical Center Utrecht, Department of Pulmonology, Utrecht, the Netherlands.
Magnus DahlbackAstraZeneca, R&D Mölndal, Mölndal, Sweden.
Kerrie ToshAstraZeneca, Alderley Park, Macclesfield, Cheshire, United Kingdom.
Pieter S HiemstraDepartment of Pulmonology, Leiden University Medical Center, Leiden, the Netherlands.
Peter J SterkDepartment of Respiratory Medicine, University of Amsterdam, Amsterdam, the Netherlands.
Avi SpiraDepartment of Medicine, Section of Computational Biomedicine, Boston University Medical Center, Boston, Massachusetts, United States of America.
Jorgen VestboOdense University Hospital, Department of Respiratory Medicine J, and University of Southern Denmark, Clinical Institute, Odense, Denmark; Respiratory and Allergy Research Group, Manchester Academic Health Sciences Centre, University Hospital South Manchester NHS Foundation Trust, Manchester, United Kingdom.
Borge G NordestgaardThe Copenhagen City Heart Study, Frederiksberg Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
Marianne BennDepartment of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
Sune F NielsenThe Copenhagen City Heart Study, Frederiksberg Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
Morten DahlDepartment of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.
W Monique VerschurenCenter for Prevention and Health Services Research, National Institute for Public Health and the Environment, Bilthoven, the Netherlands.
H Susan J PicavetCenter for Prevention and Health Services Research, National Institute for Public Health and the Environment, Bilthoven, the Netherlands.
Henriette A SmitJulius Center for Health Sciences and Primary Care, UMC Utrecht, Utrecht, the Netherlands.
Michael OwsijewitschDepartment of Diagnostic and Interventional Radiology, University Hospital of Heidelberg, Heidelberg, Germany; Translational Lung Research Center (TLRC-H), Member of the German Center for Lung Research (DZL), Heidelberg, Germany.
Hans U KauczorDepartment of Diagnostic and Interventional Radiology, University Hospital of Heidelberg, Heidelberg, Germany; Translational Lung Research Center (TLRC-H), Member of the German Center for Lung Research (DZL), Heidelberg, Germany.
Harry J de KoningDepartment of Public Health, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands.
Eva Nizankowska-MogilnickaDepartment of Respiratory Diseases, Jagiellonian University Medical College, Krakow, Poland.
Filip MejzaDepartment of Respiratory Diseases, Jagiellonian University Medical College, Krakow, Poland.
Pawel NastalekDepartment of Respiratory Diseases, Jagiellonian University Medical College, Krakow, Poland.
Cleo C van DiemenUniversity of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, the Netherlands.
Michael H ChoChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America; Harvard Medical School, Boston, Massachusetts, United States of America.
Edwin K SilvermanChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America; Harvard Medical School, Boston, Massachusetts, United States of America.
James D CrapoDivision of Pulmonary and Critical Care Medicine, National Jewish Health, Denver, Colorado, United States of America.
Terri H BeatyDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, United States of America.
David A LomasCambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.
Per BakkeDepartment of Thoracic Medicine, Haukeland University, Hospital and Institute of Medicine, University of Bergen, Bergen, Norway.
Amund GulsvikDepartment of Thoracic Medicine, Haukeland University, Hospital and Institute of Medicine, University of Bergen, Bergen, Norway.
Yohan BosséInstitut universitaire de cardiologie et de pneumologie de Québec, Department of Molecular Medicine, Laval University, Québec City, Canada.
Ma'en Obeidat
M A ObeidatDivision of Respirology, Department of Medicine, James Hogg Research Centre, St Paul's Hospital, University of British Columbia, Vancouver, BC, Canada.
Daan W LothDept Epidemiology, Erasmus MC, Rotterdam, the Netherlands; The Netherlands Healthcare Inspectorate, The Hague, the Netherlands.
Lies LahousseDept Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of respiratory medicine, University Hospital Ghent, Ghent, Belgium.
Fernando RivadeneiraDepartment of Internal medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Aging (NCHA), Rotterdam, the Netherlands.
Andre G UitterlindenDepartment of Internal medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Aging (NCHA), Rotterdam, the Netherlands.
Andre HofmanDept Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Aging (NCHA), Rotterdam, the Netherlands.
Bruno H StrickerDept Epidemiology, Erasmus MC, Rotterdam, the Netherlands; The Netherlands Healthcare Inspectorate, The Hague, the Netherlands.
Guy G BrusselleDept Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of respiratory medicine, University Hospital Ghent, Ghent, Belgium.
Cornelia M van DuijnGenetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands.
Uilke BrouwerUniversity of Groningen, University Medical Center Groningen, GRIAC research institute, Groningen, the Netherlands; University of Groningen, University Medical Center Groningen, Department of Pathology and Medical Biology, Groningen, the Netherlands.
Gerard H KoppelmanUniversity of Groningen, University Medical Center Groningen, GRIAC research institute, Groningen, the Netherlands; University of Groningen, University Medical Center Groningen, Beatrix Childrens' Hospital, Department of Pediatric Pulmonology and Pediatric Allergology, Groningen, the Netherlands.
Judith M VonkUniversity of Groningen, University Medical Center Groningen, GRIAC research institute, Groningen, the Netherlands; University of Groningen, University Medical Center Groningen, Department of Epidemiology, Groningen, the Netherlands.
Martijn C NawijnUniversity of Groningen, University Medical Center Groningen, GRIAC research institute, Groningen, the Netherlands; University of Groningen, University Medical Center Groningen, Department of Pathology and Medical Biology, Groningen, the Netherlands.
Harry J M GroenUniversity of Groningen, University Medical Center Groningen, Department of Pulmonology, Groningen, the Netherlands.
Wim TimensUniversity of Groningen, University Medical Center Groningen, Department of Pathology and Medical Biology, Groningen, the Netherlands.
H Marike BoezenUniversity of Groningen, University Medical Center Groningen, GRIAC research institute, Groningen, the Netherlands; University of Groningen, University Medical Center Groningen, Department of Epidemiology, Groningen, the Netherlands.
Dirkje S PostmaUniversity of Groningen, University Medical Center Groningen, Department of Pulmonology, Groningen, the Netherlands; University of Groningen, University Medical Center Groningen, GRIAC research institute, Groningen, the Netherlands.
LifeLines Cohort study
University of Groningen · NLUniversity Medical Center Groningen · NLErasmus MC · NLErasmus University Rotterdam · NLJagiellonian University · PLUniversity of Copenhagen · DKHaukeland University Hospital · NONational Institute for Public Health and the Environment · NLUniversity Medical Center Utrecht · NLAstraZeneca (Sweden) · SEAstraZeneca (United Kingdom) · GBBoston University · USBrigham and Women's Hospital · USCopenhagen University Hospital · DKGhent University Hospital · BEHarvard University · USHeidelberg University · DEInstitut universitaire de cardiologie et de pneumologie de Québec · CAJohns Hopkins University · USLeiden University Medical Center · NL
Funding
Metabolomic signatures of empysema and COPD progression in the COPDGene cohortR01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2012 to 2016
$31.1M(2 of 2) Genetic Epidemiology of COPDR01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2012 to 2016
$18.9MMedical Research Council G0901786NHLBI NIH HHS R01 HL089856NHLBI NIH HHS R01 HL089897NHLBI NIH HHS R0 I HL089856NHLBI NIH HHS R0 I HL089897
Abstract
backgroundChronic mucus hypersecretion (CMH) is associated with an increased frequency of respiratory infections, excess lung function decline, and increased hospitalisation and mortality rates in the general population. It is associated with smoking, but it is unknown why only a minority of smokers develops CMH. A plausible explanation for this phenomenon is a predisposing genetic constitution. Therefore, we performed a genome wide association (GWA) study of CMH in Caucasian populations.
methodsGWA analysis was performed in the NELSON-study using the Illumina 610 array, followed by replication and meta-analysis in 11 additional cohorts. In total 2,704 subjects with, and 7,624 subjects without CMH were included, all current or former heavy smokers (≥20 pack-years). Additional studies were performed to test the functional relevance of the most significant single nucleotide polymorphism (SNP).
resultsA strong association with CMH, consistent across all cohorts, was observed with rs6577641 (p = 4.25×10(-6), OR = 1.17), located in intron 9 of the special AT-rich sequence-binding protein 1 locus (SATB1) on chromosome 3. The risk allele (G) was associated with higher mRNA expression of SATB1 (4.3×10(-9)) in lung tissue. Presence of CMH was associated with increased SATB1 mRNA expression in bronchial biopsies from COPD patients. SATB1 expression was induced during differentiation of primary human bronchial epithelial cells in culture.
conclusionsOur findings, that SNP rs6577641 is associated with CMH in multiple cohorts and is a cis-eQTL for SATB1, together with our additional observation that SATB1 expression increases during epithelial differentiation provide suggestive evidence that SATB1 is a gene that affects CMH.
Indexed as
Genome-Wide Association StudyAdultAgedAged, 80 and overCells, CulturedChronic DiseaseCohort StudiesFemaleHumansLungMaleMatrix Attachment Region Binding ProteinsMiddle AgedMucusPolymorphism, Single NucleotidePulmonary Disease, Chronic ObstructiveMatrix Attachment Region Binding ProteinsSATB1 protein, human
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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.