Evidence map›Paper›PMID 39054313›Full record

ArticleNature communications2024

Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events.

Henrike O Heyne, Fanny-Dhelia Pajuste, Julian Wanner, Jennifer I Daniel Onwuchekwa, Reedik Mägi, Aarno Palotie, FinnGen, Estonian Biobank research team, Reetta Kälviainen, Mark J Daly

Abstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
–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

18 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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  4. Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Henrike O HeyneHasso Plattner Institute for Digital Engineering, University of Potsdam, Potsdam, Germany. henrike.heyne@hpi.de.ORCID http://orcid.org/0000-0001-9893-3850
Fanny-Dhelia PajusteEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-6014-0537
Julian WannerHasso Plattner Institute for Digital Engineering, University of Potsdam, Potsdam, Germany.ORCID http://orcid.org/0000-0002-1487-7909
Jennifer I Daniel OnwuchekwaHasso Plattner Institute for Digital Engineering, University of Potsdam, Potsdam, Germany.ORCID http://orcid.org/0000-0002-7721-3202
Reedik MägiEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-2964-6011
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-2527-5874
FinnGen
Estonian Biobank research team
Reetta Kälviainen *Kuopio Epilepsy Center, Neurocenter, Kuopio University Hospital, Member of ERN EpiCARE, Kuopio, Finland.
Mark J Daly *Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-0949-8752

Funding

Conduits: Mount Sinai Health System Translational Science HubUL1TR004419 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Rosalind J Wright · 2022 to 2026
$46.4M
Shared Genetics and Risk Factors Between Epilepsy and Psychiatric DiseaseR01NS106104 · NINDS · YALE UNIVERSITY · PI BRENNAND, KRISTEN JENNIFER · 2019 to 2023
$2.5M
Big Omics Data Engine 2 SupercomputerS10OD026880 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2019 to 2019
$2.0M
Academy of Finland (Suomen Akatemia) 312074Academy of Finland (Suomen Akatemia) 312075Deutsche Forschungsgemeinschaft (German Research Foundation) 516649954NCATS NIH HHS UL1 TR004419NIH HHS S10 OD026880NINDS NIH HHS R01 NS106104
6 · The paper itself

Abstract

A diagnosis of epilepsy has significant consequences for an individual but is often challenging in clinical practice. Novel biomarkers are thus greatly needed. Here, we investigated how common genetic factors (epilepsy polygenic risk scores, [PRSs]) influence epilepsy risk in detailed longitudinal electronic health records (EHRs) of > 700k Finns and Estonians. We found that a high genetic generalized epilepsy PRS (PRS

Indexed as

Epilepsy, GeneralizedGenetic Predisposition to DiseaseMultifactorial InheritanceSeizuresAdolescentAdultAgedBiomarkersChildElectronic Health RecordsEpilepsies, PartialEpilepsyFemaleGenetic Risk ScoreHumansLongitudinal StudiesBiomarkers

Identifiers

PMID39054313
PMCPMC11272783

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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.