Evidence map›Paper›PMID 41480034›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Identification of common variants influencing risk of the three-repeat tauopathy Pick's disease: a genome wide association study.

William J Scotton, Rebecca R Valentino, Alejandro Martinez-Carrasco, Raquel Real, Hannah L Macpherson, Nicole Tamvaka, Kin Mok, Michael G Heckman, Christopher Kobylecki, Valentina Escott-Price and 10 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

20 authors.

William J ScottonDementia Research Centre, Department of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology, London, UK.ORCID 0000-0003-0607-3190
Rebecca R ValentinoDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Alejandro Martinez-CarrascoDepartment of Clinical and Movement Neurosciences, University College London, Queen Square Institute of Neurology, London, UK.
Raquel RealDepartment of Clinical and Movement Neurosciences, University College London, Queen Square Institute of Neurology, London, UK.ORCID 0000-0001-8117-742X
Hannah L MacphersonDepartment of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology, London, UK.
Nicole TamvakaDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Kin MokDepartment of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology, London, UK.
Michael G HeckmanDivision of Clinical Trials and Biostatistics, Mayo Clinic, Jacksonville, FL 32224, USA.
Christopher KobyleckiDivision of Neuroscience, School of Biological Sciences, University of Manchester, UK.
Valentina Escott-PriceDementia Research Institute, Cardiff University; Cardiff, UK.ORCID 0000-0003-1784-5483
James B RoweCambridge University Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, Cambridge, UK.ORCID 0000-0001-7216-8679
Huw R MorrisDepartment of Clinical and Movement Neurosciences, University College London, Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-5473-3774
Rosa RademakersVIB-UAntwerp Center for Molecular Neurology, University of Antwerp, Antwerp 2610, Belgium.
Shanu F RoemerDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Tammaryn LashleyDepartment of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology, London, UK.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.ORCID 0000-0001-7189-7917
Jonathan D RohrerDementia Research Centre, Department of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology, London, UK.
John A HardyUK Dementia Research Institute at UCL, London, UK.
Owen A RossDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Maryam ShoaiDepartment of Neurodegenerative Disease, University College London, Queen Square Institute of Neurology, London, UK.ORCID 0000-0003-2499-8533

Funding

Vascular Structure and Function in Cognitive AgingP01AG003949 · NIA · YESHIVA UNIVERSITY · PI Richard B. LIPTON · 1985 to 2026
$73.9M
Research Education ComponentP30AG062677 · NIA · MAYO CLINIC ROCHESTER · PI KEJAL KANTARCI · 2019 to 2026
$33.5M
Utilization of proteomics and lipidomics to identify modifiers of LBDU54NS110435 · NINDS · MAYO CLINIC JACKSONVILLE · PI ROSS, OWEN A · 2019 to 2023
$14.5M
Neuropathology CoreP50NS072187 · NINDS · MAYO CLINIC JACKSONVILLE · PI DICKSON, DENNIS WILLIAM · 2010 to 2017
$8.7M
Project 2: Identifying genes and Pathways that impact Tau Toxicity in FTDU54NS100693 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2016 to 2020
$6.2M
Impact of coding and non-coding variation in progressive supranuclear palsyUG3NS104095 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DICKSON, DENNIS WILLIAM, GESCHWIND, DANIEL H · 2017 to 2019
$3.6M
Understanding the role of MAPT in Parkinsonian disordersR01NS078086 · NINDS · MAYO CLINIC JACKSONVILLE · PI ROSS, OWEN A · 2012 to 2016
$1.7M
NIA NIH HHS P01 AG003949NIA NIH HHS P30 AG062677NINDS NIH HHS P50 NS072187NINDS NIH HHS R01 NS078086NINDS NIH HHS U54 NS100693NINDS NIH HHS U54 NS110435NINDS NIH HHS UG3 NS104095Wellcome Trust
6 · The paper itself

Abstract

Pick's disease (PiD) is a rare cause of sporadic frontotemporal dementia, neuropathologically defined by the presence of Pick bodies consisting of aggregates of 3-repeat tau. Given the genetic aetiology of PiD remains unresolved, we assembled the Pick's disease International Consortium (PIC) to identify susceptibility loci through a genome-wide association study (GWAS). A GWAS was conducted in 294 autopsy confirmed PiD cases and 1,055 controls. Lead variants were annotated using the Functional Mapping and Annotation of GWAS (FUMA) platform, followed by co-localisation analyses using the METABRAIN dataset and statistical finemapping using FINEMAP and SuSiE. After exclusion of 3 cases of MAPT mutations, no variants were associated with risk of PiD at genome-wide significance (

Indexed as

frontotemporal dementiaGWASPick’s diseasetauthree-repeat tauopathy

Identifiers

PMID41480034
PMCPMC12755273

What OpenQuestion holds

Textmetadata
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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.