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Winkelmann, J.* ; Schormair, B.

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

Med. Genet. 38, 211 - 219 (2026)
Verlagsversion DOI PMC
Creative Commons Lizenzvertrag
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Schlagwörter 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
Zeitschrift Medizinische Genetik
Quellenangaben Band: 38, Heft: 3, Seiten: 211 - 219 Artikelnummer: , Supplement: ,
Verlag Springer
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)