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

Nature communications
Authors
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) increased risk for genetic generalized epilepsy (GGE) (hazard ratio [HR] 1.73 per PRS standard deviation [SD]) across lifetime and within 10 years after an unspecified seizure event. The effect of PRS was significantly larger on idiopathic generalized epilepsies, in females and for earlier epilepsy onset. Analogously, we found significant but more modest focal epilepsy PRS burden associated with non-acquired focal epilepsy (NAFE). Here, we outline the potential of epilepsy specific PRSs to serve as biomarkers after a first seizure event.

Year of Publication
2024
Journal
Nature communications
Volume
15
Issue
1
Pages
6277
Date Published
07/2024
ISSN
2041-1723
DOI
10.1038/s41467-024-50295-z
PubMed ID
39054313
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