Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events.
Where this comes from
- Record sourced from PubMed, PMID 39054313.
- Also identified by DOI 10.1038/s41467-024-50295-z and PMC identifier 11272783.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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<sub>GGE</sub>) increased risk for genetic generalized epilepsy (GGE) (hazard ratio [HR] 1.73 per PRS<sub>GGE</sub> standard deviation [SD]) across lifetime and within 10 years after an unspecified seizure event. The effect of PRS<sub>GGE</sub> 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.
Medical subject headings
- Multifactorial Inheritance
- Seizures
- Genetic Predisposition to Disease
- Epilepsy, Generalized