Assessment of the association between NUS1 variants and essential tremor.

Authors :: Yang HL
Jiang L
Pan HX
Xu K
Zhao YW
Liu ZH
Xu Q
Sun QY
Tan JQ
Li JC
Tang BS
Guo JF
Source :: Neuroscience letters [Neurosci Lett] 2021 Jan 01; Vol. 740, pp. 135441. Date of Electronic Publication: 2020 Oct 24.
Publication Year :: 2021
Abstract: 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.<br />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.<br />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).<br />Conclusion: Our study suggested that NUS1 variants may not contribute to the risk of ET.<br /> (Copyright © 2020 Elsevier B.V. All rights reserved.)