Consultorio de Neurogenética, Centro de Epilepsia, Centro Universitario de Neurología, Hospital JM Ramos Mejia, IBCN Eduardo de Robertis, CONICET, Buenos Aires, Argentina.
Epilepsy Res. 2010 Aug;90(3):234-9. doi: 10.1016/j.eplepsyres.2010.05.007. Epub 2010 Jun 15.
In order to investigate the role of ApoE epsilon4 as a modifier of the age at onset of temporal lobe epilepsy (TLE), we performed a molecular epidemiology study in 78 patients with mesial temporal lobe epilepsy and hippocampal sclerosis. Genotyping was done by a PCR-RFLP assay. In order to better estimate the role of this variant as a modifier of the age at onset, we also performed a systematic review of the literature. We included our results into a meta-analysis along with data available from seven published studies with 728 patients that looked into the role of ApoE epsilon4 in TLE. We found that ApoE epsilon4 carriers in our population had a non-significant earlier age of epilepsy onset than non-carriers. The meta-analysis confirmed this finding, showing that ApoE epsilon4 carriers had epilepsy onset almost 4 years earlier than non-carriers (mean difference 5.15 years; CI 95% 2.08-6.22; p=0.001). In conclusion, the ApoE epsilon4 isoform is a genetic factor that might influence the age at onset of TLE.
为了研究载脂蛋白 E ɛ4 作为颞叶癫痫（TLE）发病年龄修饰因子的作用，我们对 78 例伴有内侧颞叶癫痫和海马硬化的患者进行了分子流行病学研究。通过 PCR-RFLP 分析进行基因分型。为了更好地估计该变异作为发病年龄修饰因子的作用，我们还对文献进行了系统评价。我们将我们的结果与来自七个已发表的研究（共 728 例患者）的数据纳入荟萃分析，这些研究探讨了载脂蛋白 E ɛ4 在 TLE 中的作用。我们发现，我们人群中的载脂蛋白 E ɛ4 携带者的癫痫发病年龄明显早于非携带者。荟萃分析证实了这一发现，表明载脂蛋白 E ɛ4 携带者的癫痫发病年龄比非携带者早近 4 年（平均差异 5.15 年；95%CI2.08-6.22；p=0.001）。总之，载脂蛋白 E ɛ4 同工型是一个可能影响 TLE 发病年龄的遗传因素。
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