Evidence map›Paper›PMID 36653354›Full record

ArticleNature communications2023

Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.

Elmo C Saarentaus, Juha Karjalainen, Joel T Rämö, Tuomo Kiiskinen, Aki S Havulinna, Juha Mehtonen, Heidi Hautakangas, Sanni Ruotsalainen, Max Tamlander, Nina Mars and 9 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
3.2field-weighted citation impact, top 8% 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

10 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Update on the genetics of allergic diseases.The Journal of allergy and clinical immunology · 2025
    Review
  5. Article
  6. Special Issue "Molecular Advances and Perspectives of Lung Disease".International journal of molecular sciences · 2025
    Article
  7. Article
  8. Article
  9. Article
  10. Genetic and Immunological Pathogenesis of Atopic Dermatitis.The Journal of investigative dermatology · 2024
    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

19 authors at 2 institutions in 2 countries.

Elmo C SaarentausInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-8475-7187
Juha KarjalainenInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Joel T RämöInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-6429-5149
Tuomo KiiskinenInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-6306-8227
Aki S HavulinnaInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Juha MehtonenInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.ORCID 0000-0003-0554-4667
Heidi HautakangasInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-5585-6856
Sanni RuotsalainenInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-1631-4069
Max TamlanderInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.ORCID 0000-0003-2249-0971
Nina MarsInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
FINNGEN
Sanna Toppila-SalmiSkin and Allergy Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Matti PirinenInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-1664-1350
Mitja KurkiInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Samuli RipattiInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-0504-1202
Mark DalyInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Tuula PalotieOrthodontics, Department of Oral and Maxillofacial Diseases, Clinicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Antti MäkitieDepartment of Otorhinolaryngology-Head and Neck Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.ORCID 0000-0002-0451-2404
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland. aarno.palotie@helsinki.fi.ORCID 0000-0002-2527-5874
University of Helsinki · FIBroad Institute · US

Funding

2/2 Genomic strategies to identify high-impact psychiatric risk variantsU01MH105666 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI PALOTIE, AARNO · 2014 to 2018
$1.0M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NIMH NIH HHS U01 MH105666
6 · The paper itself

Abstract

Inflammatory and infectious upper respiratory diseases (ICD-10: J30-J39), such as diseases of the sinonasal tract, pharynx and larynx, are growing health problems yet their genomic similarity is not known. We analyze genome-wide association to eight upper respiratory diseases (61,195 cases) among 260,405 FinnGen participants, meta-analyzing diseases in four groups based on an underlying genetic correlation structure. Aiming to understand which genetic loci contribute to susceptibility to upper respiratory diseases in general and its subtypes, we detect 41 independent genome-wide significant loci, distinguishing impact on sinonasal or pharyngeal diseases, or both. Fine-mapping implicated non-synonymous variants in nine genes, including three linked to immune-related diseases. Phenome-wide analysis implicated asthma and atopic dermatitis at sinonasal disease loci, and inflammatory bowel diseases and other immune-mediated disorders at pharyngeal disease loci. Upper respiratory diseases also genetically correlated with autoimmune diseases such as rheumatoid arthritis, autoimmune hypothyroidism, and psoriasis. Finally, we associated separate gene pathways in sinonasal and pharyngeal diseases that both contribute to type 2 immunological reaction. We show shared heritability among upper respiratory diseases that extends to several immune-mediated diseases with diverse mechanisms, such as type 2 high inflammation.

Indexed as

AsthmaPharyngeal DiseasesRespiration DisordersGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsHumansInflammationPolymorphism, Single Nucleotide

Identifiers

PMID36653354
PMCPMC9849224
OpenAlexW4317242295

What OpenQuestion holds

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Registered trials

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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.