Jiménez-Jiménez Félix Javier, Alonso-Navarro Hortensia, García-Martín Elena, Álvarez Ignacio, Pastor Pau, Agúndez José A G
Section of Neurology, Hospital Universitario del Sureste, E28500 Arganda del Rey, Spain.
ARADyAL Instituto de Salud Carlos III, University Institute of Molecular Pathology Biomarkers, University of Extremadura, E10071 Caceres, Spain.
Pharmaceuticals (Basel). 2021 May 27;14(6):516. doi: 10.3390/ph14060516.
There are many reports suggesting an important role of genetic factors in the etiopathogenesis of essential tremor (ET), encouraging continuing the research for possible genetic markers. Linkage studies in families with ET have identified 4 genes/loci for familial ET, although the responsible gene(s) have not been identified. Genome-wide association studies (GWAS) described several variants in , , , , and , related with ET, but none of them have been confirmed in replication studies. In addition, the case-control association studies performed for candidate variants have not convincingly linked any gene with the risk for ET. Exome studies described the association of several genes with familial ET (, , , , , , , , , , , , , , and ), but they were found only in singular families and, again, not found in other families or other populations, suggesting that some can be private polymorphisms. The search for responsible genes for ET is still ongoing.
有许多报告表明遗传因素在特发性震颤(ET)的病因发病机制中起重要作用,这促使人们继续寻找可能的遗传标记。对ET家族的连锁研究已确定了4个家族性ET的基因/位点,尽管尚未确定致病基因。全基因组关联研究(GWAS)描述了与ET相关的几个基因中的变异,但在重复研究中均未得到证实。此外,针对候选变异进行的病例对照关联研究也未能令人信服地将任何基因与ET风险联系起来。外显子组研究描述了几个基因与家族性ET的关联(……),但仅在个别家族中发现,在其他家族或其他人群中未发现,这表明其中一些可能是私人多态性。对ET致病基因的寻找仍在继续。