Assessment of the association between NUS1 variants and essential tremor

Hong-Lan Yang; Li Jiang; Hong-Xu Pan; Ke Xu; Yu-Wen Zhao; Zhen-Hua Liu; Qian Xu; Qi-Ying Sun; Jie-Qiong Tan; Jin-Chen Li; Bei-Sha Tang; Ji-Feng Guo

doi:10.1016/j.neulet.2020.135441

Assessment of the association between NUS1 variants and essential tremor

Neurosci Lett. 2021 Jan 1:740:135441. doi: 10.1016/j.neulet.2020.135441. Epub 2020 Oct 24.

Authors

Hong-Lan Yang¹, Li Jiang¹, Hong-Xu Pan¹, Ke Xu¹, Yu-Wen Zhao¹, Zhen-Hua Liu¹, Qian Xu¹, Qi-Ying Sun², Jie-Qiong Tan³, Jin-Chen Li⁴, Bei-Sha Tang⁵, Ji-Feng Guo⁶

Affiliations

¹ Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
² Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.
³ Center for Medical Genetics, School of Life Sciences, Central South University, 410078 Changsha, China.
⁴ National Clinical Research Center for Geriatric Disorders, Central South University, 410008 Changsha, Hunan, China.
⁵ Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China; Center for Medical Genetics, School of Life Sciences, Central South University, 410078 Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, 410008 Changsha, Hunan, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, 410008, Changsha, Hunan, China.
⁶ Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China; Center for Medical Genetics, School of Life Sciences, Central South University, 410078 Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, 410008 Changsha, Hunan, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, 410008, Changsha, Hunan, China. Electronic address: [email protected].

PMID: 33184037
DOI: 10.1016/j.neulet.2020.135441

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.

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.

Keywords: Essential tremor; NUS1variants; association study; mutation.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Asian People
Case-Control Studies
China / epidemiology
Essential Tremor / epidemiology
Essential Tremor / genetics*
Exons / genetics
Female
Genetic Predisposition to Disease / epidemiology
Genetic Variation
High-Throughput Screening Assays
Humans
Introns / genetics
Male
Mass Screening
Middle Aged
Mutation, Missense / genetics
Receptors, Cell Surface / genetics*
Software

Substances

NUS1 protein, human
Receptors, Cell Surface