Polygenic risk scores (PRSs) are used to quantify the cumulative effects of a number of genetic variants, which may individually have a very small effect on susceptibility to a disease; we used PRSs to better understand the genetic contribution to common epilepsy and its subtypes.

We first replicated previous single associations using 373 unrelated patients. We then calculated PRSs in the same French Canadian patients with epilepsy divided into 7 epilepsy subtypes and population-based controls. We fitted a logistic mixed model to calculate the variance explained by the PRS using pseudo-R² statistics.

We show that the PRS explains more of the variance in idiopathic generalized epilepsy than in patients with nonacquired focal epilepsy. We also demonstrate that the variance explained is different within each epilepsy subtype.

Globally, we support the notion that PRSs provide a reliable measure to rightfully estimate the contribution of genetic factors to the pathophysiologic mechanism of epilepsies, but further studies are needed on PRSs before they can be used clinically.

多基因风险评分 (PRS) 用于量化许多遗传变异的累积影响，这些变异可能单独对疾病的易感性产生非常小的影响；我们使用 PRS 来更好地了解遗传对常见癫痫及其亚型的贡献。

我们首先使用 373 名无关患者复制了以前的单一关联。然后，我们计算了相同的法裔加拿大癫痫患者的 PRS，分为 7 个癫痫亚型和基于人群的对照。我们拟合了一个逻辑混合模型来计算 PRS 使用伪 R ²统计量解释的方差。

我们表明，与非获得性局灶性癫痫患者相比，PRS 解释了更多特发性全身性癫痫的差异。我们还证明了解释的方差在每个癫痫亚型中是不同的。

在全球范围内，我们支持 PRS 提供了一种可靠的测量方法来正确估计遗传因素对癫痫病理生理机制的贡献的观点，但在 PRS 用于临床之前需要进一步研究。