Evidence map›Paper›PMID 37315093›Full record

ArticleMolecular biology and evolution2023

Major Genetic Risk Factors for Dupuytren's Disease Are Inherited From Neandertals.

Richard Ågren, Snehal Patil, Xiang Zhou, FinnGen., Kristoffer Sahlholm, Svante Pääbo, Hugo Zeberg

Open access · goldAbstract read
In one paragraph

Article in Molecular biology and evolution, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 2 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

8 citing papers in PubMed, 2 syntheses or guidelines pooled it, 13 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  4. Review
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  7. Archaic hominin admixture and its consequences for modern humans.Current opinion in genetics & development · 2025
    Review
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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

7 authors at 3 institutions in 4 countries.

Richard ÅgrenDepartment of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
Snehal PatilDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
Xiang ZhouDepartment of Biostatistics, University of Michigan, Ann Arbor, MI, USA.
FinnGen.
Kristoffer SahlholmDepartment of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
Svante PääboDepartment of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Hugo ZebergDepartment of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0001-7118-1249
Okinawa Institute of Science and Technology Graduate University · JPUniversity of Michigan · USKarolinska Institutet · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dupuytren's disease is characterized by fingers becoming permanently bent in a flexed position. Whereas people of African ancestry are rarely afflicted by Dupuytren's disease, up to ∼30% of men over 60 years suffer from this condition in northern Europe. Here, we meta-analyze 3 biobanks comprising 7,871 cases and 645,880 controls and find 61 genome-wide significant variants associated with Dupuytren's disease. We show that 3 of the 61 loci harbor alleles of Neandertal origin, including the second and third most strongly associated ones (P = 6.4 × 10-132 and P = 9.2 × 10-69, respectively). For the most strongly associated Neandertal variant, we identify EPDR1 as the causal gene. Dupuytren's disease is an example of how admixture with Neandertals has shaped regional differences in disease prevalence.

Indexed as

Dupuytren ContractureNeanderthalsAllelesAnimalsHumansMaleRisk FactorsDupuytren's diseaseEPDR1genome-wide association studiesNeandertalsrisk variantsplicing quantitative trait loci

Identifiers

PMID37315093
PMCPMC10266526
OpenAlexW4380628026

What OpenQuestion holds

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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.