Evidence map›Paper›PMID 31959851›Full record

SynthesisNature communications2020

Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis.

Thorunn A Olafsdottir, Fannar Theodors, Kristbjorg Bjarnadottir, Unnur Steina Bjornsdottir, Arna B Agustsdottir, Olafur A Stefansson, Erna V Ivarsdottir, Jon K Sigurdsson, Stefania Benonisdottir, Gudmundur I Eyjolfsson and 25 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
69citing papers in PubMed, 3 pooled it
10.2field-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

69 citing papers in PubMed, 3 syntheses or guidelines pooled it, 101 citations in OpenAlex.

  1. Genetic characterization of preschool wheeze phenotypes.The Journal of allergy and clinical immunology · 2025
    Pooled it
  2. Pooled it
  3. Pooled it
  4. Review
  5. Article
  6. Mechanisms and therapeutic strategies of asthma: from bench to bedside.Signal transduction and targeted therapy · 2026
    Review
  7. Article
  8. Cumulative genetic risk for asthma contributes to disease severity in children with asthma.The journal of allergy and clinical immunology. Global · 2026
    Article
  9. Article
  10. Article
  11. Sequencing and health data resource of children of African ancestry.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
  12. Article
  13. Article
  14. The role of theERJ open research · 2025
    Article
  15. Article
  16. The genetic architecture of fibromyalgia across 2.5 million individuals.medRxiv : the preprint server for health sciences · 2025
    Article
  17. Multi-omics integration predicts 17 disease incidences in the UK Biobank.medRxiv : the preprint server for health sciences · 2025
    Article
  18. Article
  19. Article
  20. Shared genetic investigation of asthma and blood eosinophils in relation to chronic rhinosinusitis.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025
    Article

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

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

35 authors at 4 institutions in 2 countries.

Thorunn A OlafsdottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Fannar TheodorsdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Kristbjorg BjarnadottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Unnur Steina BjornsdottirDepartment of Medicine, Landspitali, The National University Hospital of Iceland, Reykjavik, Iceland.
Arna B AgustsdottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Olafur A StefanssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Erna V IvarsdottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-2069-0681
Jon K SigurdssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Stefania BenonisdottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Gudmundur I EyjolfssonThe Laboratory in Mjodd, RAM, Reykjavik, Iceland.
David GislasonThe Medical Center Mjodd, Reykjavik, Iceland.
Thorarinn GislasonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Steinunn GuðmundsdóttirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Arnaldur GylfasondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Bjarni V HalldorssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0003-0756-0767
Gisli H HalldorssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-7067-9862
Thorhildur JuliusdottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Anna M KristinsdottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Dora LudviksdottirFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Bjorn R LudvikssonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Gisli MassondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Kristjan NorlanddeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Pall T OnundarsonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Isleifur OlafssonDepartment of Clinical Biochemistry, Landspitali, The National University Hospital of Iceland, Reykjavik, Iceland.
Olof SigurdardottirFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Lilja StefansdottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Gardar SveinbjornssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Vinicius TragantedeCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-8223-8957
Daniel F GudbjartssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-5222-9857
Gudmar ThorleifssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Patrick SulemdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-7123-6123
Unnur ThorsteinsdottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Gudmundur L NorddahldeCODE genetics/Amgen, Inc., Reykjavik, Iceland.
Ingileif JonsdottirdeCODE genetics/Amgen, Inc., Reykjavik, Iceland. ingileif.jonsdottir@decode.is.ORCID http://orcid.org/0000-0001-8339-150X
Kari StefanssondeCODE genetics/Amgen, Inc., Reykjavik, Iceland. kari.stefansson@decode.is.ORCID http://orcid.org/0000-0003-1676-864X
deCODE Genetics (Iceland) · ISUniversity of Iceland · ISNational University Hospital of Iceland · ISReykjavík University · IS

Funding

Medical Research Council MC_PC_12028Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

Asthma is one of the most common chronic diseases affecting both children and adults. We report a genome-wide association meta-analysis of 69,189 cases and 702,199 controls from Iceland and UK biobank. We find 88 asthma risk variants at 56 loci, 19 previously unreported, and evaluate their effect on other asthma and allergic phenotypes. Of special interest are two low frequency variants associated with protection against asthma; a missense variant in TNFRSF8 and 3' UTR variant in TGFBR1. Functional studies show that the TNFRSF8 variant reduces TNFRSF8 expression both on cell surface and in soluble form, acting as loss of function. eQTL analysis suggests that the TGFBR1 variant acts through gain of function and together with an intronic variant in a downstream gene, SMAD3, points to defective TGFβR1 signaling as one of the biological perturbations increasing asthma risk. Our results increase the number of asthma variants and implicate genes with known role in T cell regulation, inflammation and airway remodeling in asthma pathogenesis.

Indexed as

3' Untranslated RegionsAirway RemodelingAsthmaEosinophilsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIcelandKi-1 AntigenLeukocyte CountMicroRNAsPolymorphism, Single NucleotideQuantitative Trait LociReceptor, Transforming Growth Factor-beta Type IT-LymphocytesUnited Kingdom3' Untranslated RegionsKi-1 AntigenMicroRNAsReceptor, Transforming Growth Factor-beta Type ITGFBR1 protein, human

Identifiers

PMID31959851
PMCPMC6971247
OpenAlexW2999819660

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.