Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, Greece, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, GR.
Department of Neurosurgery, School of Medicine, University Hospital of Larissa, University of Thessaly, Larissa, GR.
Tremor Other Hyperkinet Mov (N Y). 2020 Jun 11;10:4. doi: 10.5334/tohm.67.
In the current review, we thoroughly reviewed 74 identified articles regarding genes and genetic loci that confer susceptibility to ET. Over 50 genes/genetic loci have been examined for possible association with ET, but consistent results failed to be reported raising the need for collaborative multiethnic studies.
Essential tremor (ET) is a common movement disorder, which is mainly characterized by bilateral tremor (postural and/or kinetic) in the upper limbs, with other parts of the body possibly involved. While the pathophysiology of ET is still unclear, there is accumulating evidence indicating that genetic variability may be heavily involved in ET pathogenesis. This review focuses on the role of genetic risk factors in ET susceptibility.
The PubMed database was searched for articles written in English, for studies with humans with ET, controls without ET, and genetic variants. The terms "essential tremor" and "polymorphism" (as free words) were used during search. We also performed meta-analyses for the most examined genetic variants.
Seventy four articles concerning and and genes, and ETM genetic loci were included in the current review. Results from meta-analyses revealed a marginal association for the STK32B rs10937625 and a marginal trend for association (in sensitivity analysis) for the LINGO1 rs9652490, with ET.
Quite a few variants have been examined for their possible association with ET. LINGO1 rs9652490 and STK32B rs10937625 appear to influence, to some extent, ET susceptibility. However, the conflicting results and the lack of replication for many candidate genes raise the need for collaborative multiethnic studies.
要点：在本次综述中，我们彻底回顾了 74 篇关于导致 ET 易感性的基因和遗传位点的文章。已经检查了 50 多个基因/遗传位点，以研究它们与 ET 的可能关联，但未能报告一致的结果，这就需要进行协作的多民族研究。
背景：特发性震颤（ET）是一种常见的运动障碍，主要表现为上肢的双侧震颤（姿势性和/或动力性），身体的其他部位也可能受到影响。虽然 ET 的病理生理学仍不清楚，但越来越多的证据表明遗传变异性可能在 ET 的发病机制中起重要作用。本综述重点介绍遗传风险因素在 ET 易感性中的作用。
方法：我们在 PubMed 数据库中搜索了用英文撰写的、关于 ET 患者、无 ET 的对照者和遗传变异体的文章。在搜索中使用了“essential tremor”和“polymorphism”（作为自由词）。我们还对最受检查的遗传变异体进行了荟萃分析。
结果：目前的综述共纳入了 74 篇关于 CACNA1A、CACNB4、GCH1、CSNK1E 和 ETM 遗传位点的文章。荟萃分析结果显示，STK32B rs10937625 与 ET 存在边缘关联，而 LINGO1 rs9652490 则存在关联趋势（在敏感性分析中）。
讨论：已经检查了相当多的变体，以研究它们与 ET 的可能关联。LINGO1 rs9652490 和 STK32B rs10937625 似乎在某种程度上影响 ET 的易感性。然而，许多候选基因的结果相互矛盾且缺乏复制，这就需要进行协作的多民族研究。
