Evidence map›Paper›PMID 30068317›Full record

ArticleBMC medical genetics2018

Genome-wide association study of lung function and clinical implication in heavy smokers.

Xingnan Li, Victor E Ortega, Elizabeth J Ampleford, R Graham Barr, Stephanie A Christenson, Christopher B Cooper, David Couper, Mark T Dransfield, Mei Lan K Han, Nadia N Hansel and 10 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01969344 (Subpopulations and Intermediate Outcome Measures in COPD Study), which is not on this map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
4.8field-weighted citation impact, top 4% 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.

NCT01969344 active not recruitingnot on this map

Subpopulations and Intermediate Outcome Measures in COPD Study

TypeobservationalSponsorUniversity of North Carolina, Chapel HillRan2010 to 2031Enrolled2,981ConditionsCOPD, Chronic Obstructive Pulmonary Disease, Chronic Bronchitis, Emphysema
3 · Its place in the literature

Who cites it

26 citing papers in PubMed, 41 citations in OpenAlex.

  1. Article
  2. Article
  3. Genome-wide Association Study IdentifiesAllergy, asthma & immunology research · 2026
    Article
  4. Article
  5. Lung NR3C1Communications biology · 2025
    Article
  6. αThe journal of allergy and clinical immunology. In practice · 2025
    Article
  7. Article
  8. Article
  9. Asthma and Chronic Obstructive Pulmonary Disease.Clinics in chest medicine · 2023
    Review
  10. Article
  11. Alpha-1 Antitrypsin MZ Heterozygosity Is an Endotype of Chronic Obstructive Pulmonary Disease.American journal of respiratory and critical care medicine · 2022
    Article
  12. Article
  13. A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.American journal of physiology. Lung cellular and molecular physiology · 2021
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. The Effects of RareAmerican journal of respiratory and critical care medicine · 2020
    Article
  19. Article
  20. Genetics of COPD.Annual review of physiology · 2020
    Review
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

20 authors at 12 institutions in 1 country.

Xingnan LiDivision of Genetics, Genomics and Precision Medicine, Department of Medicine, University of Arizona, BioScience Research Lab, Room 253, 1230 N. Cherry Avenue, PO Box 210242, Tucson, AZ, 85721, USA. lixingnan1@deptofmed.arizona.edu.ORCID 0000-0002-1208-8658
Victor E OrtegaCenter for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Elizabeth J AmplefordCenter for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
R Graham BarrDepartment of Medicine, Columbia University, New York, NY, USA.
Stephanie A ChristensonDivision of Pulmonary, Critical Care, Sleep & Allergy, Department of Medicine and Cardiovascular Research Institute, University of California at San Francisco, San Francisco, California, USA.
Christopher B CooperDepartment of Medicine, University of California at Los Angeles, Los Angeles, California, USA.
David CouperDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Mark T DransfieldDivision of Pulmonary, Allergy & Critical Care Medicine, Lung Health Center, University of Alabama at Birmingham, Birmingham, AL, USA.
Mei Lan K HanDivision of Pulmonary & Critical Care, University of Michigan, Ann Arbor, MI, USA.
Nadia N HanselDivision of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Eric A HoffmanDepartment of Radiology, University of Iowa, Iowa City, Iowa, USA.
Richard E KannerDepartment of Internal Medicine/Pulmonary and Critical Care Medicine, University of Utah, Salt Lake City, UT, USA.
Eric C KleerupDepartment of Medicine, University of California at Los Angeles, Los Angeles, California, USA.
Fernando J MartinezDepartment of Medicine, Weill Cornell Medical College of Cornell University, New York, NY, USA.
Robert PaineDepartment of Internal Medicine/Pulmonary and Critical Care Medicine, University of Utah, Salt Lake City, UT, USA.
Prescott G WoodruffDivision of Pulmonary, Critical Care, Sleep & Allergy, Department of Medicine and Cardiovascular Research Institute, University of California at San Francisco, San Francisco, California, USA.
Gregory A HawkinsCenter for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Eugene R BleeckerDivision of Genetics, Genomics and Precision Medicine, Department of Medicine, University of Arizona, BioScience Research Lab, Room 253, 1230 N. Cherry Avenue, PO Box 210242, Tucson, AZ, 85721, USA.
Deborah A MeyersDivision of Genetics, Genomics and Precision Medicine, Department of Medicine, University of Arizona, BioScience Research Lab, Room 253, 1230 N. Cherry Avenue, PO Box 210242, Tucson, AZ, 85721, USA.
SPIROMICS Research Group
University of Arizona · USWake Forest University · USUniversity of California, Los Angeles · USUniversity of California, San Francisco · USUniversity of Utah · USColumbia University · USCornell University · USJohns Hopkins University · USUniversity of Alabama at Birmingham · USUniversity of Iowa · USUniversity of Michigan · USUniversity of North Carolina at Chapel Hill · US

Funding

Pulmonary Toxicology Facility CoreP30ES005605 · NIEHS · UNIVERSITY OF IOWA · PI Brandi Janssen · 1990 to 2026
$40.5M
SOUTHWEST ENVIRONMENTAL HEALTH SCIENCES CENTERP30ES006694 · NIEHS · UNIVERSITY OF ARIZONA · PI DEAN BILLHEIMER · 1994 to 2026
$36.7M
Vector Core-Core 2P30DK054759 · NIDDK · UNIVERSITY OF IOWA · PI Alejandro Antonio Pezzulo · 1998 to 2026
$30.5M
SPIROMICS II: Biological underpinnings of COPD heterogeneity and progressionU01HL137880 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI WOODRUFF, PRESCOTT G · 2017 to 2021
$27.9M
Functional CT Assessment of Pulmonary Arterial Dysfunction in Smoking Associated EmphysemaR01HL130883 · NHLBI · UNIVERSITY OF IOWA · PI HOFFMAN, ERIC ALFRED · 2016 to 2020
$3.6M
Mentoring Research in Precision Medicine for Lung DiseaseK24HL137013 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PRESCOTT G WOODRUFF · 2017 to 2026
$1.2M
Hypercoagulability and Chronic Lung Disease in Older AdultsK23HL130627 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI OELSNER, ELIZABETH · 2016 to 2019
$686k
Effects of Rare Variants and Ancestry on Beta Agonist Response In AsthmaK08HL118128 · NHLBI · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI ORTEGA, VICTOR E. · 2015 to 2017
$404k
NHLBI NIH HHS HHSN268200900013CNHLBI NIH HHS HHSN268200900014CNHLBI NIH HHS HHSN268200900015CNHLBI NIH HHS HHSN268200900016CNHLBI NIH HHS HHSN268200900017CNHLBI NIH HHS HHSN268200900018CNHLBI NIH HHS HHSN268200900019CNHLBI NIH HHS HHSN268200900020CNHLBI NIH HHS K08 HL118128NHLBI NIH HHS K23 HL130627NHLBI NIH HHS K24 HL137013NHLBI NIH HHS R01 HL130883NHLBI NIH HHS U01 HL137880NIDDK NIH HHS P30 DK054759NIEHS NIH HHS P30 ES005605NIEHS NIH HHS P30 ES006694
6 · The paper itself

Abstract

backgroundThe aim of this study is to identify genetic loci associated with post-bronchodilator FEV

methodsGenome-wide association study (GWAS) of post-bronchodilator FEV

resultsA functional rare variant in SERPINA1 (rs28929474: Glu342Lys) was significantly associated with post-bronchodilator FEV

conclusionsThis study is the first to show genome-wide significant association of rs28929474 in SERPINA1 with lung function. Of clinical importance, heterozygotes of rs28929474 (4.7% of subjects) have significantly reduced pulmonary function, demonstrating a major impact in smokers. The multi-gene model is significantly associated with CT-based emphysema and clinical outcome measures of severity. Combining genetic information with demographic and environmental factors will further increase the predictive power for assessing reduced lung function and COPD severity.

Indexed as

Agedalpha 1-AntitrypsinFemaleGenetic LociGenome-Wide Association StudyGenotypeHumansLongitudinal StudiesLungMaleMiddle AgedPolymorphism, Single NucleotideProspective StudiesPulmonary Disease, Chronic ObstructiveRespiratory Function TestsSmokersalpha 1-AntitrypsinCOPDGWASLung functionrs28929474SERPINA1SPIROMICS

Identifiers

PMID30068317
PMCPMC6090900
OpenAlexW2885292374

What OpenQuestion holds

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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.