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Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population 期刊论文

编号：

945ff150-44ae-473d-9d2b-5711a783364b
作者：

Li, Jiang#^[3]Long, Yuzhou(隆昱洲)#^[4]Huang, Xiaoqin^[1,2];Chen, Yuan^[1,2];Chen, Weikang^[3];Liu, Shang^[3];Chu, Jiayou^[1,2];Yang, Zhaoqing(杨照青)^[1,2]Sun, Hao*^[1,2]Fang, Kewei(方克伟)*^[3]
语种：

英文
期刊：

NEUROSCIENCE LETTERS ISSN：0304-3940 2017 年 657 卷 (1 - 4) ; SEP 14
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关键词：

Southwestern chinese Dystonia Mutation DYT1
摘要：

Background: TOR1A plays a very important role in early-onset isolated dystonia. Studying the association between the common variants of this gene and dystonia can help us understand the connection between TOR1A mutations and this disease.
Methods: The TOR1A exon 5 was sequenced in 223 isolated dystonia patients and 210 age-adjusted controls. Patients and controls all came from Southwest China.
Results: The following two common variants were found in the 31-UTR of TOR1A: NM_000113.2:c.*414deIG (rs35153737) and NM_000113.2:c.*824deIG (rs3842225). The rs35153737 variant showed a statistically significant association with dystonia using the allele model (P=0.035) and the dominant genetic model (P=0.018); however, no association between rs3842225 and dystonia was found.
Conclusion: Our study suggests that there is an association between rs35153737 and dystonia in a southwestern Chinese population, and it may be caused by high linkage disequilibrium between this deletion and potential pathogenic variants in TOR1A. (C) 2017 Published by Elsevier Ireland Ltd.
推荐引用方式
GB/T 7714：

Li Jiang,Long Yuzhou,Huang Xiaoqin, et al. Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population [J].NEUROSCIENCE LETTERS,2017,657:1-4.
APA：

Li Jiang,Long Yuzhou,Huang Xiaoqin,Chen Yuan,&Fang Kewei.(2017).Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population .NEUROSCIENCE LETTERS,657:1-4.
MLA：

Li Jiang, et al. "Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population" .NEUROSCIENCE LETTERS 657(2017):1-4.
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