Evidence map›Paper›PMID 30335480›Full record

ArticleAmerican journal of respiratory cell and molecular biology2019

Integrative Genomics Analysis Identifies ACVR1B as a Candidate Causal Gene of Emphysema Distribution.

Adel Boueiz, Betty Pham, Robert Chase, Andrew Lamb, Sool Lee, Zun Zar Chi Naing, Michael H Cho, Margaret M Parker, Phuwanat Sakornsakolpat, Craig P Hersh and 8 more

Open access · greenAbstract read
In one paragraph

Article in American journal of respiratory cell and molecular biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.2field-weighted citation impact, top 12% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 22 citations in OpenAlex.

  1. Characterisation of a COPD-associated nephronectin (The European respiratory journal · 2025
    Article
  2. Lung Transcriptomics Link Emphysema to Barrier Dysfunction and Macrophage Subpopulations.American journal of respiratory and critical care medicine · 2025
    Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Update in Chronic Obstructive Pulmonary Disease 2019.American journal of respiratory and critical care medicine · 2020
    Review
  10. Review
  11. Article
  12. Pharmacogenomics of chronic obstructive pulmonary disease.Expert review of respiratory medicine · 2019
    Review
  13. Identifying Chronic Obstructive Pulmonary Disease Genes: Shining the Light on Dark DNA.American journal of respiratory cell and molecular biology · 2019
    Article
  14. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors at 3 institutions in 1 country.

Adel Boueiz1 Channing Division of Network Medicine.
Betty Pham1 Channing Division of Network Medicine.
Robert Chase1 Channing Division of Network Medicine.
Andrew Lamb1 Channing Division of Network Medicine.
Sool Lee1 Channing Division of Network Medicine.
Zun Zar Chi Naing1 Channing Division of Network Medicine.
Michael H Cho1 Channing Division of Network Medicine.
Margaret M Parker1 Channing Division of Network Medicine.
Phuwanat Sakornsakolpat1 Channing Division of Network Medicine.ORCID 0000-0002-4308-0974
Craig P Hersh1 Channing Division of Network Medicine.ORCID 0000-0002-1342-4334
James D Crapo3 Pulmonary Medicine, National Jewish Health, Denver, Colorado; and.
Andrew B Stergachis4 Division of Genetics, and.
Ruth Tal-Singer5 GSK, King of Prussia, Pennsylvania.
Dawn L DeMeo1 Channing Division of Network Medicine.
Edwin K Silverman1 Channing Division of Network Medicine.
Xiaobo Zhou1 Channing Division of Network Medicine.
Peter J Castaldi1 Channing Division of Network Medicine.
COPDGene investigators, by Core Units:, ECLIPSE Investigators:, GenKOLS Investigators:
Pulmonary and Critical Care Associates · USBrigham and Women's Hospital · USNational Jewish Health · US

Funding

Genetic Epidemiology of COPDU01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2007 to 2021
$56.9M
Metabolomic signatures of empysema and COPD progression in the COPDGene cohortR01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2012 to 2016
$31.1M
Respiratory Computational Discovery CoreP01HL114501 · NHLBI · WEILL MEDICAL COLL OF CORNELL UNIV · PI SILVERMAN, EDWIN K · 2013 to 2025
$24.9M
Genetic 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
$18.9M
SYSTEMS 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
$13.6M
Systems Biology of Airway DiseaseP01HL132825 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI WEISS, SCOTT T · 2016 to 2020
$12.6M
Using Integrative Genomics To Identify and Characterize Emphysema-Associated eQTLR01HL124233 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CASTALDI, PETER · 2014 to 2024
$7.1M
Identifying Genetic Determinants of Severe, Early-Onset COPDR01HL113264 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CHO, MICHAEL H., SILVERMAN, EDWIN K · 2012 to 2016
$6.0M
Metabolic Control of Stemness in lung epithelial progenitors by FAM13AR01HL127200 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI ZHOU, ANNY XIAOBO · 2015 to 2024
$4.9M
SYSTEMS GENOMICS OF THE ASTHMA-COPD OVERLAP SYNDROMER01HL130512 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HERSH, CRAIG P · 2016 to 2019
$3.5M
INTEGRATIVE GENOMICS OF CLINICAL SUBTYPES IN COPDGENER01HL125583 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HERSH, CRAIG P · 2015 to 2018
$3.5M
NHLBI NIH HHS K08 HL141601NHLBI NIH HHS P01 HL114501NHLBI NIH HHS P01 HL132825NHLBI NIH HHS R01 HL089856NHLBI NIH HHS R01 HL089897NHLBI NIH HHS R01 HL113264NHLBI NIH HHS R01 HL124233NHLBI NIH HHS R01 HL125583NHLBI NIH HHS R01 HL126596NHLBI NIH HHS R01 HL127200NHLBI NIH HHS R01 HL130512NHLBI NIH HHS T32 HL007427NHLBI NIH HHS U01 HL089856NHLBI NIH HHS U01 HL089897NIEHS NIH HHS R25 ES011080
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have identified multiple associations with emphysema apicobasal distribution (EABD), but the biological functions of these variants are unknown. To characterize the functions of EABD-associated variants, we integrated GWAS results with 1) expression quantitative trait loci (eQTL) from the Genotype Tissue Expression (GTEx) project and subjects in the COPDGene (Genetic Epidemiology of COPD) study and 2) cell type epigenomic marks from the Roadmap Epigenomics project. On the basis of these analyses, we selected a variant near ACVR1B (activin A receptor type 1B) for functional validation. SNPs from 168 loci with P values less than 5 × 10

Indexed as

Activin Receptors, Type ICell Line, TumorGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansJurkat CellsLungPolymorphism, Single NucleotideProof of Concept StudyPulmonary EmphysemaQuantitative Trait LociT-Lymphocyte SubsetsTransforming Growth Factor beta1Activin Receptors, Type IACVR1B protein, humanTGFB1 protein, humanTransforming Growth Factor beta1chronic obstructive pulmonary diseaseemphysema distributiongeneintegrative genomicstransforming growth factor-β signaling

Identifiers

PMID30335480
PMCPMC6444627
OpenAlexW2897210781

What OpenQuestion holds

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Registered trials

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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.