Evidence map›Paper›PMID 36653343›Full record

SynthesisNature communications2023

Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.

Joel T Rämö, Tuomo Kiiskinen, Richard Seist, Kristi Krebs, Masahiro Kanai, Juha Karjalainen, Mitja Kurki, Eija Hämäläinen, Paavo Häppölä, Aki S Havulinna and 14 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
2.9field-weighted citation impact, top 10% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.

  1. Interventions for the Diagnosis and Management of Otosclerosis: An Umbrella Review.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2026
    Pooled it
  2. Article
  3. Genotype-phenotype correlation-driven precision management in hereditary conductive and mixed hearing loss.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 · 2026
    Article
  4. Heterozygous Nonsense Mutation in the Nuclear Transport FactorInternational journal of molecular sciences · 2026
    Article
  5. Article
  6. Exploring the genetic landscape of otosclerosis: current understanding and future perspectives.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2025
    Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Otosclerosis under the magnifying glass.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
    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

24 authors at 4 institutions in 3 countries.

Joel T RämöInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.ORCID 0000-0002-6429-5149
Tuomo KiiskinenInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.ORCID 0000-0002-6306-8227
Richard SeistDepartment of Otolaryngology - Head and Neck Surgery, Stanford University School of Medicine, Stanford, CA, USA.
Kristi KrebsEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID 0000-0003-0494-2751
Masahiro KanaiInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.ORCID 0000-0001-5165-4408
Juha KarjalainenInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Mitja KurkiInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Eija HämäläinenInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Paavo HäppöläInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.ORCID 0000-0002-8502-0582
Aki S HavulinnaInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Heidi HautakangasInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.ORCID 0000-0002-5585-6856
FinnGen
Reedik MägiEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID 0000-0002-2964-6011
Priit PaltaInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.ORCID 0000-0001-9320-7008
Tõnu EskoEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Andres MetspaluEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID 0000-0002-3718-796X
Matti PirinenInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.ORCID 0000-0002-1664-1350
Konrad J KarczewskiInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.ORCID 0000-0003-2878-4671
Samuli RipattiInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.ORCID 0000-0002-0504-1202
Lili MilaniEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID 0000-0002-5323-3102
Konstantina M StankovicDepartment of Otolaryngology - Head and Neck Surgery, Stanford University School of Medicine, Stanford, CA, USA.
Antti MäkitieDepartment of Otorhinolaryngology-Head and Neck Surgery, University of Helsinki and HUS Helsinki University Hospital, Helsinki, Finland.ORCID 0000-0002-0451-2404
Mark J DalyInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland. aarno.palotie@helsinki.fi.ORCID 0000-0002-2527-5874
University of Helsinki · FIBroad Institute · USUniversity of Tartu · EEStanford University · US

Funding

Medical Research Council MC_PC_17228
6 · The paper itself

Abstract

Otosclerosis is one of the most common causes of conductive hearing loss, affecting 0.3% of the population. It typically presents in adulthood and half of the patients have a positive family history. The pathophysiology of otosclerosis is poorly understood. A previous genome-wide association study (GWAS) identified a single association locus in an intronic region of RELN. Here, we report a meta-analysis of GWAS studies of otosclerosis in three population-based biobanks comprising 3504 cases and 861,198 controls. We identify 23 novel risk loci (p < 5 × 10

Indexed as

Genome-Wide Association StudyOtosclerosisAnimalsBiological Specimen BanksGenetic Predisposition to DiseaseMicePolymorphism, Single Nucleotide

Identifiers

PMID36653343
PMCPMC9849444
OpenAlexW4317242287

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.