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Assessment of the association between NUS1 variants and essential tremor.
Yang, Hong-Lan; Jiang, Li; Pan, Hong-Xu; Xu, Ke; Zhao, Yu-Wen; Liu, Zhen-Hua; Xu, Qian; Sun, Qi-Ying; Tan, Jie-Qiong; Li, Jin-Chen; Tang, Bei-Sha; Guo, Ji-Feng.
Afiliação
  • Yang HL; Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
  • Jiang L; Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
  • Pan HX; Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
  • Xu K; Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
  • Zhao YW; Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
  • Liu ZH; Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
  • Xu Q; Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
  • Sun QY; Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.
  • Tan JQ; Center for Medical Genetics, School of Life Sciences, Central South University, 410078 Changsha, China.
  • Li JC; National Clinical Research Center for Geriatric Disorders, Central South University, 410008 Changsha, Hunan, China.
  • Tang BS; 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 Cha
  • Guo JF; 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 Cha
Neurosci Lett ; 740: 135441, 2021 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-33184037
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.
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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Tipo de estudo: Estudo prognóstico / Fatores de risco Idioma: Inglês Revista: Neurosci Lett Ano de publicação: 2021 Tipo de documento: Artigo País de afiliação: China

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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Tipo de estudo: Estudo prognóstico / Fatores de risco Idioma: Inglês Revista: Neurosci Lett Ano de publicação: 2021 Tipo de documento: Artigo País de afiliação: China