Hasso Plattner Institute for Digital Engineering, University of Potsdam, Potsdam, Germany.
Hasso Plattner Institute, Mount Sinai School of Medicine, New York, NY, US.
Nat Commun. 2024 Jul 25;15(1):6277. doi: 10.1038/s41467-024-50295-z.
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.
癫痫的诊断对个人有重大影响，但在临床实践中往往具有挑战性。因此，非常需要新的生物标志物。在这里，我们研究了常见的遗传因素（癫痫多基因风险评分[PRSs]）如何影响 70 多万芬兰人和爱沙尼亚人的详细纵向电子健康记录（EHRs）中的癫痫风险。我们发现，高遗传全面性癫痫 PRS（PRS）会增加全面性癫痫（GGE）的风险（每 PRS 标准差[SD]的风险比[HR]为 1.73），终生风险增加，在未指明的癫痫发作事件后 10 年内风险增加。PRS 的影响在特发性全面性癫痫中更大，在女性中以及癫痫发作较早的情况下更大。类似地，我们发现非获得性局灶性癫痫（NAFE）与局灶性癫痫的 PRS 负担存在显著但更为适度的相关性。在这里，我们概述了癫痫特异性 PRS 在首次癫痫发作后作为生物标志物的潜力。
