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关于常见癫痫的遗传基础,遗传学研究告诉了我们什么?多基因或复杂性癫痫?

What do genetic studies tell us about the heritable basis of common epilepsy? Polygenic or complex epilepsy?

作者信息

Koeleman Bobby P C

机构信息

Department of Genetics, UMC Utrecht, Utrecht, The Netherlands.

出版信息

Neurosci Lett. 2018 Feb 22;667:10-16. doi: 10.1016/j.neulet.2017.03.042. Epub 2017 Mar 25.

Abstract

The search for genes associated with common epilepsy, including both focal and generalised epilepsies, has been intensive in the past few decades. Consequently, our understanding of the genetic background of common epilepsy has improved considerably, and current genetic studies have optimised their design accordingly, showing much promise for the future. Nevertheless, we can only explain a fraction of the heritability of common epilepsy with the currently known genetic factors. These factors have been identified with a range of different gene mapping techniques, including linkage analysis of epilepsy families, association studies, and recent large scale sequencing studies, which individually are optimal to detect a certain class of genetic variation. Here, we give a selected overview of the genetic studies that illustrate the evolution of epilepsy genetics and contribute to the evidence for a polygenic basis of common epilepsy that likely involves both rare and common disease variants.

摘要

在过去几十年里,人们一直在深入探寻与常见癫痫(包括局灶性癫痫和全身性癫痫)相关的基因。因此,我们对常见癫痫遗传背景的理解有了显著提升,当前的基因研究也相应地优化了设计,展现出了广阔的前景。然而,利用目前已知的遗传因素,我们只能解释常见癫痫遗传力的一小部分。这些因素是通过一系列不同的基因定位技术确定的,包括癫痫家族的连锁分析、关联研究以及近期的大规模测序研究,这些技术各自在检测某一类遗传变异方面具有优势。在此,我们精选了一些基因研究进行概述,这些研究阐释了癫痫遗传学的发展历程,并为常见癫痫的多基因基础提供了证据,这种基础可能涉及罕见和常见的疾病变异。

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