Evidence map›Paper›PMID 32675199›Full record

ArticleThe European respiratory journal2020

The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes.

Tomoko Nakanishi, Vincenzo Forgetta, Tomohiro Handa, Toyohiro Hirai, Vincent Mooser, G Mark Lathrop, William O C M Cookson, J Brent Richards

Open access · hybridAbstract read
In one paragraph

Article in The European respiratory journal, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed
3.5field-weighted citation impact, top 5% 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

42 citing papers in PubMed, 72 citations in OpenAlex.

  1. Observational
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. αERJ open research · 2025
    Article
  9. Article
  10. Alpha-1 antitrypsin deficiency and risk of sleep apnea: a nationwide cohort study.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025
    Article
  11. Review
  12. Article
  13. Liver diseases: epidemiology, causes, trends and predictions.Signal transduction and targeted therapy · 2025
    Review
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Nine controversial questions about augmentation therapy for alpha-1 antitrypsin deficiency: a viewpoint.European respiratory review : an official journal of the European Respiratory Society · 2023
    Article
  20. A test of automated use of electronic health records to aid in diagnosis of genetic disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2023
    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

8 authors at 6 institutions in 3 countries.

Tomoko NakanishiDept of Human Genetics, McGill University, Montréal, QC, Canada.ORCID 0000-0001-9510-5646
Vincenzo ForgettaCentre for Clinical Epidemiology, Dept of Medicine, Lady Davis Institute for Medical Research, Jewish General Hospital, McGill University, Montréal, QC, Canada.ORCID 0000-0002-6061-4720
Tomohiro HandaDept of Advanced Medicine for Respiratory Failure, Graduate School of Medicine, Kyoto University, Kyoto, Japan.ORCID 0000-0002-3378-6412
Toyohiro HiraiDept of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Vincent MooserDept of Human Genetics, McGill University, Montréal, QC, Canada.
G Mark LathropMcGill University and Genome Québec Innovation Centre, Montréal, QC, Canada.
William O C M CooksonNational Heart and Lung Institute, Imperial College London, London, UK.ORCID 0000-0001-9551-4677
J Brent RichardsDept of Human Genetics, McGill University, Montréal, QC, Canada brent.richards@mcgill.ca.ORCID 0000-0002-3746-9086
Jewish General Hospital · CAKyoto University · JPJapan Society for the Promotion of Science · JPMcGill University · CAMcGill University and Génome Québec Innovation Centre · CARoyal Brompton & Harefield NHS Foundation Trust · GB

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

Alpha-1 antitrypsin deficiency (AATD), mainly due to the PI*ZZ genotype in

Indexed as

alpha 1-Antitrypsin DeficiencyPulmonary Disease, Chronic ObstructiveUndiagnosed Diseasesalpha 1-AntitrypsinCost of IllnessGenotypeHumansalpha 1-Antitrypsin

Identifiers

PMID32675199
PMCPMC7726845
OpenAlexW3042175018

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.