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LINC00323基因变异与特发性震颤风险增加有关。

LINC00323 variant is associated with increased risk of essential tremor.

作者信息

Tan Brendan, Ng Ebonne, Sun Qiao Yang, Mai Aaron, Chan Ling-Ling, Welton Thomas, Prakash Kumar M, Tay Kay Yaw, Au Wing Lok, Tan Louis C S, Tan Eng-King, Xiao Bin

机构信息

Department of Neurology, National Neuroscience Institute, Singapore, Singapore.

Department of Research, National Neuroscience Institute, Singapore, Singapore.

出版信息

Ann Clin Transl Neurol. 2025 Apr 30;12(7):1504-5. doi: 10.1002/acn3.52303.

Abstract

Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case-control study, we show that the LINC00323 variant, identified in a European GWAS study, is associated with an increased risk of ET in our Asian cohort. Our results corroborate the association of this risk variant with ET shared by diverse ethnicities. Functional studies of this variant have the potential to identify novel therapeutic targets for the general ET population.

摘要

特发性震颤(ET)是一种常见的成人运动障碍,越来越多的证据表明遗传因素是ET风险的主要原因。然而,关于这些基因变异的复制研究结果并不一致。在我们的病例对照研究中,我们发现,在一项欧洲全基因组关联研究(GWAS)中鉴定出的LINC00323变异与我们亚洲队列中ET风险增加相关。我们的结果证实了这种风险变异与不同种族共有的ET之间的关联。对该变异的功能研究有可能为一般ET人群确定新的治疗靶点。

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本文引用的文献

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Essential tremor.特发性震颤。
Nat Rev Dis Primers. 2021 Nov 11;7(1):83. doi: 10.1038/s41572-021-00314-w.
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