Evidence map›Paper›PMID 40750593›Full record

ArticleNPJ Parkinson's disease2025

Large-scale copy number variant analysis in genes linked to Parkinson´s disease.

Zied Landoulsi, Katja Lohmann, Eva-Juliane Vollstedt, Emily Wedgwood-Benn, Lisa-Marie Niestroj, Björn-Hergen Laabs, Sebastian Sendel, Alexander Balck, Max Borsche, Dennis Lal and 15 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ Parkinson's disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
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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

25 authors.

Zied Landoulsi *Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg. zied.landoulsi@lih.lu.
Katja Lohmann *Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Eva-Juliane VollstedtInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Emily Wedgwood-BennInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Lisa-Marie NiestrojCologne Center for Genomics (CCG), Medical Faculty of the University of Cologne, Cologne, Germany.
Björn-Hergen LaabsInstitute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.
Sebastian SendelInstitute of Medical Informatics and Statistics, Christian-Albrechts-University of Kiel, University Hospital Schleswig-Holstein, Kiel, Germany.
Alexander BalckInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Max BorscheInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Dennis LalDepartment of Neurology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Anne GrünewaldLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Norbert BrüggemannInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Andrew HicksInstitute for Biomedicine, Eurac Research, Bolzano, Italy.
Meike KastenInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Kirsten E ZeunerDepartment of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Lara M LangeInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Wolfgang LiebInstitute of Epidemiology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Brit MollenhauerParacelsus Elena Clinic, Kassel, Germany.
Heike PawlackInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Peter P PramstallerInstitute for Biomedicine, Eurac Research, Bolzano, Italy.
Amke CaliebeInstitute of Medical Informatics and Statistics, Christian-Albrechts-University of Kiel, University Hospital Schleswig-Holstein, Kiel, Germany.
Inke R KönigInstitute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.
Patrick May *Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Christine Klein *Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Funding

Deutsche Forschungsgemeinschaft FOR 2488
6 · The paper itself

Abstract

Genetic studies of Parkinson's disease (PD) have focused on single nucleotide variants (SNVs), with limited attention to copy number variants (CNVs). This study investigates CNVs in PD using candidate PD-related genes and genome-wide approaches. We identified CNVs from the ProtectMove project genotyping data of 2364 PD patients and 2909 controls using PennCNV. We validated 119 of 137 detected CNVs in PD-related genes (87%) using MLPA/qPCR, including 104 in PRKN, six in PARK7, four in SNCA, and others in LRRK2, RAB32, and VPS35. CNVs were present in 2.4% of patients and 1.5% of controls. Notably, 0.9% of patients carried potentially disease-causing CNVs compared to 0.1% in controls. CNVs were enriched in patients (OR = 1.67, p = 0.03) due to PRKN CNVs, particularly in early-onset cases. These results highlight the importance of CNVs in PD, particularly in PRKN, and suggest that rare CNVs in LRRK2 and RAB32 may contribute to disease risk and diagnostic potential.

Identifiers

PMID40750593
PMCPMC12316845

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.