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Open Access Green as soon as Postprint is submitted to ZB.
Polygenic risk scores in neurological disorders: Restless legs syndrome as a translational model.
Med. Genet. 38, 211 - 219 (2026)
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.
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Publication type
Article: Journal article
Document type
Review
Keywords
Restless Legs Syndrome ; Polygenic Risk Score ; Penetrance ; Multifactorial Inheritance ; Disease ; Risk Stratification ; Human Genetics ; Genome-wide Association Study
ISSN (print) / ISBN
0936-5931
e-ISSN
1863-5490
Journal
Medizinische Genetik
Quellenangaben
Volume: 38,
Issue: 3,
Pages: 211 - 219
Publisher
Springer
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)