Evidence map›Paper›PMID 38172110›Full record

SynthesisNature communications2024

A genome-wide association meta-analysis implicates Hedgehog and Notch signaling in Dupuytren's disease.

Sophie A Riesmeijer, Zoha Kamali, Michael Ng, Dmitriy Drichel, Bram Piersma, Kerstin Becker, Thomas B Layton, Jagdeep Nanchahal, Michael Nothnagel, Ahmad Vaez and 4 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
8.0field-weighted citation impact, top 2% 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

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Review
  10. Article
  11. Article
  12. GWAS data help unravel Dupuytren disease.Nature reviews. Rheumatology · 2024
    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

14 authors at 7 institutions in 4 countries.

Sophie A RiesmeijerUniversity of Groningen, University Medical Center Groningen, Department of Plastic Surgery, Groningen, The Netherlands. sophieriesmeijer@gmail.com.ORCID 0000-0001-9196-7361
Zoha KamaliUniversity of Groningen, University Medical Center Groningen, Department of Epidemiology, Groningen, The Netherlands.ORCID 0000-0001-6492-5887
Michael NgNuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Science, Botnar Research Centre, University of Oxford, Oxford, UK.ORCID 0000-0003-3463-5568
Dmitriy DrichelCologne Center for Genomics, University of Cologne, Cologne, Germany.
Bram PiersmaUniversity of Groningen, Groningen, The Netherlands.
Kerstin BeckerCologne Center for Genomics, University of Cologne, Cologne, Germany.
Thomas B LaytonKennedy Institute, University of Oxford, Oxford, UK.
Jagdeep NanchahalKennedy Institute, University of Oxford, Oxford, UK.ORCID 0000-0002-9579-9411
Michael NothnagelCologne Center for Genomics, University of Cologne, Cologne, Germany.ORCID 0000-0001-8305-7114
Ahmad VaezUniversity of Groningen, University Medical Center Groningen, Department of Epidemiology, Groningen, The Netherlands.ORCID 0000-0001-9048-3795
Hans Christian HenniesFaculty of Medicine and the Cologne University Hospital, Cologne, Germany.ORCID 0000-0001-7210-2389
Paul M N WerkerUniversity of Groningen, University Medical Center Groningen, Department of Plastic Surgery, Groningen, The Netherlands.
Dominic FurnissNuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Science, Botnar Research Centre, University of Oxford, Oxford, UK.ORCID 0000-0003-2780-7173
Ilja M NolteUniversity of Groningen, University Medical Center Groningen, Department of Epidemiology, Groningen, The Netherlands.ORCID 0000-0001-5047-4077
University Medical Center Groningen · NLUniversity of Cologne · DEIsfahan University of Medical Sciences · IRNuffield Orthopaedic Centre · GBUniversity of Oxford · GBUniversity of Groningen · NLUniversity of Huddersfield · GB

Funding

Wellcome Trust
6 · The paper itself

Abstract

Dupuytren's disease (DD) is a highly heritable fibrotic disorder of the hand with incompletely understood etiology. A number of genetic loci, including Wnt signaling members, have been previously identified. Our overall aim was to identify novel genetic loci, to prioritize genes within the loci for functional studies, and to assess genetic correlation with associated disorders. We performed a meta-analysis of six DD genome-wide association studies from three European countries and extensive bioinformatic follow-up analyses. Leveraging 11,320 cases and 47,023 controls, we identified 85 genome-wide significant single nucleotide polymorphisms in 56 loci, of which 11 were novel, explaining 13.3-38.1% of disease variance. Gene prioritization implicated the Hedgehog and Notch signaling pathways. We also identified a significant genetic correlation with frozen shoulder. The pathways identified highlight the potential for new therapeutic targets and provide a basis for additional mechanistic studies for a common disorder that can severely impact hand function.

Indexed as

Dupuytren ContractureAnimalsGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHedgehogsHumansPolymorphism, Single NucleotideWnt Signaling Pathway

Identifiers

PMID38172110
PMCPMC10764787
OpenAlexW4390542142

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.