评估 NUS1 变异与特发性震颤之间的关联。
Assessment of the association between NUS1 variants and essential tremor.
机构信息
Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.
出版信息
Neurosci Lett. 2021 Jan 1;740:135441. doi: 10.1016/j.neulet.2020.135441. Epub 2020 Oct 24.
BACKGROUND
A recent study on early onset Parkinson's disease (PD) revealed that NUS1 is a risk gene for PD. Clinically, essential tremor (ET) is closely related to PD. In this study, we aimed to detect NUS1 variants and assess the effect of those variants on patients with ET.
METHODS
The 5 coding regions and the exon-intron boundaries of NUS1 were directly sequenced in 395 patients with ET and an equal number of healthy controls, matched for age and sex. The function of variants was assessed by pathogenic predictive software programs. Genetic analysis of variants was used to evaluate susceptibility to ET.
RESULTS
A total of 6 exonic variants were identified, including 3 synonymous and 3 missense variants. The non-synonymous variants were predicted to be tolerable. No variants had significant association with ET (none of the p-values were less than 0.05, using Fisher's exact test).
CONCLUSION
Our study suggested that NUS1 variants may not contribute to the risk of ET.
背景
最近一项关于早发性帕金森病（PD）的研究表明，NUS1 是 PD 的风险基因。临床上，特发性震颤（ET）与 PD 密切相关。在这项研究中，我们旨在检测 NUS1 变异体，并评估这些变异体对 ET 患者的影响。
方法
对 395 名 ET 患者和年龄、性别相匹配的相同数量的健康对照者的 NUS1 的 5 个编码区和外显子-内含子边界进行直接测序。通过致病性预测软件程序评估变异体的功能。对变异体进行遗传分析，以评估其对 ET 的易感性。
结果
共发现 6 个外显子变异体，包括 3 个同义变异体和 3 个错义变异体。非同义变异体被预测为可耐受的。没有变异体与 ET 有显著关联（Fisher 精确检验的 p 值均小于 0.05）。
结论
我们的研究表明，NUS1 变异体可能不会增加 ET 的风险。
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