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, Reetta Kälviainen and Mark J. Daly
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Henrike O. Heyne: University of Potsdam
Fanny-Dhelia Pajuste: University of Tartu
Julian Wanner: University of Potsdam
Jennifer I. Daniel Onwuchekwa: University of Potsdam
Reedik Mägi: University of Tartu
Aarno Palotie: University of Helsinki
Reetta Kälviainen: Member of ERN EpiCARE
Mark J. Daly: University of Helsinki

Nature Communications, 2024, vol. 15, issue 1, 1-11

Abstract: 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 (PRSGGE) increased risk for genetic generalized epilepsy (GGE) (hazard ratio [HR] 1.73 per PRSGGE standard deviation [SD]) across lifetime and within 10 years after an unspecified seizure event. The effect of PRSGGE 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.

Date: 2024
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DOI: 10.1038/s41467-024-50295-z

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