Evidence map›Paper›PMID 42416875›Full record

ArticleMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V2026

Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model.

Juliane Winkelmann, Barbara Schormair

Abstract read
In one paragraph

Article in Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2026. 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

2 authors.

Juliane WinkelmannTechnical Universtiy Munich Institute of Human Genetics Ismaningerstrasse 22 81675 Neuherberg Germany.ORCID https://orcid.org/0000-0002-3074-599X
Barbara SchormairHelmholtz Center Munich Institute of Neurogenomics Ingolstädter Landstr. 1 85764 Neuherberg Germany.ORCID https://orcid.org/0000-0003-0942-5243

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Polygenic risk scores (PRS) aggregate the effects of common genetic variants into a single metric of disease predisposition. Many neurological disorders exhibit a polygenic architecture, thereby providing a rationale for the application of PRS in risk prediction, biological subtyping, and stratification of patients to inform clinical decision-making. Here, we use restless legs syndrome (RLS) as an informative translational model to discuss both opportunities and current constraints of PRS use in neurology. RLS has a well-characterized polygenic component with 164 GWAS risk loci, a PRS with moderate case-control discrimination (AUC 0.73) when used alone, but showing potential for higher performance (AUC 0.82-0.91) in machine-learning models incorporating non-genetic variables. We discuss how multi-omics integration, PRS-based clinical subgrouping, and rare variant penetrance modification can advance PRS development and application in RLS and contextualize these developments within the wider landscape of PRS in neurological disorders.

Indexed as

multi-omicspolygenic risk scorerestless legs syndromerisk stratificationwearable sensor

Identifiers

PMID42416875
PMCPMC13340635

What Socratic holds

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LicenceCC BY
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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 Socratic graph.