Evidence map›Paper›PMID 36726148›Full record

SynthesisRespiratory research2023

X chromosome associations with chronic obstructive pulmonary disease and related phenotypes: an X chromosome-wide association study.

Lystra P Hayden, Brian D Hobbs, Robert Busch, Michael H Cho, Ming Liu, Camila M Lopes-Ramos, David A Lomas, Per Bakke, Amund Gulsvik, Edwin K Silverman and 5 more

2 registry-linked trialsAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Respiratory research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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.

NCT00292552 completednot on this map

A Multicentre 3 Year Longitudinal Prospective Study to Identify Novel Endpoints and Compare These With Forced Expiratory Volume in 1 Second (FEV1) for Their Ability to Measure and Predict COPD Severity and Its Progression Over Time

TypeobservationalSponsorGlaxoSmithKlineRan2005 to 2010Enrolled2,747ConditionsPulmonary Disease, Chronic ObstructiveArmsNovel endpoint determination
NCT00608764 active not recruitingnot on this map

Genetic Epidemiology of Chronic Obstructive Pulmonary Disease (COPDGene)

TypeobservationalSponsorBrigham and Women's HospitalRan2007 to 2028Enrolled10,718ConditionsPulmonary Disease, Chronic Obstructive, Emphysema, Bronchitis, Chronic
3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Identification ofFrontiers in immunology · 2026
    Review
  2. Article
  3. Article
  4. Article
  5. Indoor air pollution and airway health.The Journal of allergy and clinical immunology · 2024
    Review
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Lystra P HaydenDivision of Pulmonary Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Brian D HobbsChanning Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, 181 Longwood Ave, Boston, MA, 02115, USA.
Robert BuschDivision of Pulmonology, Allergy, and Critical Care, U.S. Food and Drug Administration, Silver Spring, MD, USA.
Michael H ChoChanning Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, 181 Longwood Ave, Boston, MA, 02115, USA.
Ming LiuBioinformatics and Computational Biology Program, Worcester Polytechnic Institute, Worcester, MA, USA.
Camila M Lopes-RamosChanning Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, 181 Longwood Ave, Boston, MA, 02115, USA.
David A LomasUCL Respiratory, University College London, London, UK.
Per BakkeDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Amund GulsvikDepartment of Clinical Science, University of Bergen, Bergen, Norway.
Edwin K SilvermanChanning Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, 181 Longwood Ave, Boston, MA, 02115, USA.
James D CrapoDivision of Pulmonary Sciences and Critical Care Medicine, National Jewish Health, Denver, CO, USA.
Terri H BeatyJohns Hopkins School of Public Health, Baltimore, MD, USA.
Nan M LairdDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Christoph LangeDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Dawn L DeMeoChanning Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, 181 Longwood Ave, Boston, MA, 02115, USA. dawn.demeo@channing.harvard.edu.

Funding

Genetic Epidemiology of COPDU01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2007 to 2021
$56.9M
Respiratory Computational Discovery CoreP01HL114501 · NHLBI · WEILL MEDICAL COLL OF CORNELL UNIV · PI CHOI, MARY E · 2013 to 2025
$24.9M
Genetic Epidemiology of COPDU01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2007 to 2021
$20.7M
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, Bioinformatics, and BiostatisticsP01HL105339 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2011 to 2015
$12.2M
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
Unraveling the Complexities of Risk and Mechanism in CancerR35CA220523 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI QUACKENBUSH, JOHN · 2018 to 2024
$6.0M
Genetic Features of Gender Differences in COPDR01HL089438 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI DEMEO, DAWN L · 2008 to 2011
$3.3M
Networks Tools to Understand Sex- and Gender-Specific Drivers of DiseaseR01HG011393 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI DEMEO, DAWN L, QUACKENBUSH, JOHN · 2021 to 2024
$2.1M
Genetic Epidemiology of Respiratory Function in Former Preterm ChildrenK23HL136851 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HAYDEN, LYSTRA P. · 2018 to 2022
$969k
Multi-omic Subtyping of Chronic Obstructive Pulmonary DiseaseK08HL136928 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HOBBS, BRIAN DANIEL · 2017 to 2021
$864k
NCI NIH HHS R35 CA220523NHGRI NIH HHS R01 HG011393NHLBI NIH HHS K08 HL136928NHLBI NIH HHS K23 HL136851NHLBI NIH HHS P01 HL105339NHLBI NIH HHS P01 HL114501NHLBI NIH HHS R01 HL089438NHLBI NIH HHS R01 HL113264NHLBI NIH HHS T32 HL007427NHLBI NIH HHS U01 HL089856NHLBI NIH HHS U01 HL089897NIH HHS T32HL007427
6 · The paper itself

Abstract

backgroundThe association between genetic variants on the X chromosome to risk of COPD has not been fully explored. We hypothesize that the X chromosome harbors variants important in determining risk of COPD related phenotypes and may drive sex differences in COPD manifestations.

methodsUsing X chromosome data from three COPD-enriched cohorts of adult smokers, we performed X chromosome specific quality control, imputation, and testing for association with COPD case-control status, lung function, and quantitative emphysema. Analyses were performed among all subjects, then stratified by sex, and subsequently combined in meta-analyses.

resultsAmong 10,193 subjects of non-Hispanic white or European ancestry, a variant near TMSB4X, rs5979771, reached genome-wide significance for association with lung function measured by FEV

conclusionsThis investigation identified loci influencing lung function, COPD, and emphysema in a comprehensive genetic association meta-analysis of X chromosome genetic markers from multiple COPD-related datasets. Sex differences play an important role in the pathobiology of complex lung disease, including X chromosome variants that demonstrate differential effects by sex and variants that may be relevant through escape from X chromosome inactivation. Comprehensive interrogation of the X chromosome to better understand genetic control of COPD and lung function is important to further understanding of disease pathology. Trial registration Genetic Epidemiology of COPD Study (COPDGene) is registered at ClinicalTrials.gov, NCT00608764 (Active since January 28, 2008). Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints Study (ECLIPSE), GlaxoSmithKline study code SCO104960, is registered at ClinicalTrials.gov, NCT00292552 (Active since February 16, 2006). Genetics of COPD in Norway Study (GenKOLS) holds GlaxoSmithKline study code RES11080, Genetics of Chronic Obstructive Lung Disease.

Indexed as

EmphysemaPulmonary Disease, Chronic ObstructivePulmonary EmphysemaFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMalePhenotypeX ChromosomeCOPDEmphysemaLung functionSex differencesX chromosome inactivationX chromosome-wide association study

Identifiers

PMID36726148
PMCPMC9891756

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.