Evidence map›Paper›PMID 26038974›Full record

ArticleAmerican journal of respiratory and critical care medicine2015

Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.

Eva P Szymanski, Janice M Leung, Cedar J Fowler, Carissa Haney, Amy P Hsu, Fei Chen, Priya Duggal, Andrew J Oler, Ryan McCormack, Eckhard Podack and 12 more

Open access · greenAbstract read
In one paragraph

Article in American journal of respiratory and critical care medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers.

0numbers the graph read from it
0cells of the map it votes in
81citing papers in PubMed
15.5field-weighted citation impact, top 1% 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

81 citing papers in PubMed, 160 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Journal of clinical tuberculosis and other mycobacterial diseases · 2024
    Article
  14. Growing from common ground: nontuberculous mycobacteria and bronchiectasis.European respiratory review : an official journal of the European Respiratory Society · 2024
    Review
  15. Article
  16. Review
  17. Review
  18. Review
  19. Article
  20. Article

21 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

22 authors at 6 institutions in 1 country.

Eva P Szymanski1 Laboratory of Clinical Infectious Diseases.
Janice M Leung1 Laboratory of Clinical Infectious Diseases.
Cedar J Fowler1 Laboratory of Clinical Infectious Diseases.
Carissa Haney1 Laboratory of Clinical Infectious Diseases.
Amy P Hsu1 Laboratory of Clinical Infectious Diseases.
Fei Chen2 Department of Epidemiology, Bloomberg School of Public Health, and.
Priya Duggal2 Department of Epidemiology, Bloomberg School of Public Health, and.
Andrew J Oler3 Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, National Institute of Allergy and Infectious Diseases, and.
Ryan McCormack4 Department of Microbiology and Immunology, School of Medicine, University of Miami, Miami, Florida.
Eckhard Podack4 Department of Microbiology and Immunology, School of Medicine, University of Miami, Miami, Florida.
Rebecca A Drummond1 Laboratory of Clinical Infectious Diseases.
Michail S Lionakis1 Laboratory of Clinical Infectious Diseases.
Sarah K Browne1 Laboratory of Clinical Infectious Diseases.
D Rebecca Prevots1 Laboratory of Clinical Infectious Diseases.
Michael Knowles5 Department of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and.
Gary Cutting6 McKusick-Nathans Institute of Genetic Medicine, School of Medicine, The Johns Hopkins University, Baltimore, Maryland.
Xinyue Liu7 Institute for Genome Sciences.
Scott E Devine7 Institute for Genome Sciences.
Claire M Fraser7 Institute for Genome Sciences.
Hervé Tettelin7 Institute for Genome Sciences.
Kenneth N Olivier10 Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.
Steven M Holland1 Laboratory of Clinical Infectious Diseases.
National Institutes of Health · USUniversity of Maryland, Baltimore · USJohns Hopkins University · USUniversity of Miami · USNational Institute of Allergy and Infectious Diseases · USUniversity of North Carolina at Chapel Hill · US

Funding

Bronchiectasis and chronic airway infectionZIAHL006200 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI FENNELLY, KEVIN · 2015 to 2025
$25.1M
Immunopathogenesis of Fungal InfectionsZIAAI001175 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI LIONAKIS, MICHAIL · 2012 to 2025
$23.9M
Genes And Gene Products As ImmunoadjuvantsZIAAI000647 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.6M
Transgenic Animal Models Of Human Immune DefectsZIAAI000646 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$22.2M
Longitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary DyskinesiaU54HL096458 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI DELL, SHARON · 2009 to 2023
$20.0M
Epidemiology of Mycobacterial InfectionsZIAAI001035 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI PREVOTS, D. REBECCA · 2009 to 2025
$11.6M
Pathogenesis of PCD Lung DiseaseR01HL071798 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KNOWLES, MICHAEL R · 2004 to 2021
$7.2M
International Research in ThailandZIAAI001069 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI HOLLAND, STEVEN · 2009 to 2025
$4.3M
Natural Genetic Variation in the Human GenomeR01HG002898 · NHGRI · UNIVERSITY OF MARYLAND BALTIMORE · PI DEVINE, SCOTT E · 2004 to 2019
$3.7M
Killing of intracellular bacteria by Perforin-2R01AI110810 · NIAID · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MUNSON, GEORGE PATRICK · 2015 to 2019
$2.1M
Natural mutagenesis of human genomes by endogenous retrotransposonsR01CA166661 · NCI · UNIVERSITY OF MARYLAND BALTIMORE · PI DEVINE, SCOTT E · 2012 to 2016
$1.6M
Elucidating Perforin-2 mediated killing mechanisms against pathogenic bacteriaF31AI106290 · NIAID · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MCCORMACK, RYAN MICHAEL · 2013 to 2018
$268k
Intramural NIH HHSNCI NIH HHS R01 CA166661NHGRI NIH HHS R01 HG002898NHLBI NIH HHS 5R01 HL071798NHLBI NIH HHS R01 HL071798NHLBI NIH HHS U54 HL096458NIAID NIH HHS F31 AI106290NIAID NIH HHS HHSN272200900009CNIAID NIH HHS R01 AI110810PHS HHS HHSN272200900009C
6 · The paper itself

Abstract

rationaleThe clinical features of patients infected with pulmonary nontuberculous mycobacteria (PNTM) are well described, but the genetic components of infection susceptibility are not.

objectivesTo examine genetic variants in patients with PNTM, their unaffected family members, and a control group.

methodsWhole-exome sequencing was done on 69 white patients with PNTM and 18 of their white unaffected family members. We performed a candidate gene analysis using immune, cystic fibrosis transmembrance conductance regulator (CFTR), cilia, and connective tissue gene sets. The numbers of patients, family members, and control subjects with variants in each category were compared, as was the average number of variants per person. MEASUREMENTS AND MAIN

resultsA significantly higher number of patients with PNTM than the other subjects had low-frequency, protein-affecting variants in immune, CFTR, cilia, and connective tissue categories (35, 26, 90, and 90%, respectively). Patients with PNTM also had significantly more cilia and connective tissue variants per person than did control subjects (2.47 and 2.55 compared with 1.38 and 1.40, respectively; P = 1.4 × 10(-6) and P = 2.7 × 10(-8), respectively). Patients with PNTM had an average of 5.26 variants across all categories (1.98 in control subjects; P = 2.8 × 10(-17)), and they were more likely than control subjects to have variants in multiple categories. We observed similar results for family members without PNTM infection, with the exception of the immune category.

conclusionsPatients with PNTM have more low-frequency, protein-affecting variants in immune, CFTR, cilia, and connective tissue genes than their unaffected family members and control subjects. We propose that PNTM infection is a multigenic disease in which combinations of variants across gene categories, plus environmental exposures, increase susceptibility to the infection.

Indexed as

Connective TissueAdultAgedAged, 80 and overCase-Control StudiesCausalityCiliaCohort StudiesCystic Fibrosis Transmembrane Conductance RegulatorExomeFamilyFemaleGenetic Predisposition to DiseaseGenetic VariationHumansImmunityCFTR protein, humanCystic Fibrosis Transmembrane Conductance Regulatorbronchiectasisciliageneticsimmune system diseasesnontuberculous mycobacteria

Identifiers

PMID26038974
PMCPMC4595692
OpenAlexW2123431872

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.