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中国人群中与原发性震颤相关但与帕金森病无关的 SLC1A2 变异。

SLC1A2 variant associated with essential tremor but not Parkinson disease in Chinese subjects.

机构信息

Department of Neurology, Singapore General Hospital, Singapore.

出版信息

Neurology. 2013 Apr 23;80(17):1618-9. doi: 10.1212/WNL.0b013e31828f1903. Epub 2013 Apr 17.

Abstract

Essential tremor (ET) is characterized by postural and action tremor.(1-3) A genome-wide association study (GWAS) identified a LINGO1 gene variant to be associated with ET.(4) Subsequent GWAS further identified an intronic variant (rs3794087) of the main glial glutamate transporter (SLC1A2) gene to be associated with ET with an odds ratio (OR) of approximately 1.4.(5) We conducted a case-control study to examine the SLC1A2 gene variant in an Asian cohort of ET. In addition, we also investigated the variant in patients with Parkinson disease (PD) because the GWAS LINGO1 variant has been implicated in both ET and PD and etiologic links between the conditions have been suggested.(6.)

摘要

特发性震颤(ET)的特征是姿势性和动作性震颤。(1-3) 全基因组关联研究(GWAS)发现 LINGO1 基因变异与 ET 有关。(4) 随后的 GWAS 进一步发现主要神经胶质谷氨酸转运体(SLC1A2)基因的内含子变异(rs3794087)与 ET 相关,优势比(OR)约为 1.4。(5) 我们进行了一项病例对照研究,以检查亚洲 ET 患者的 SLC1A2 基因变异。此外,我们还研究了帕金森病(PD)患者的变异,因为 GWAS LINGO1 变异与 ET 和 PD 有关,并且这两种疾病之间存在病因联系。(6.)

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