中国人群中TOR1A基因多态性rs2296793和rs3842225与颈部肌张力障碍的关联分析
Association analysis of TOR1A polymorphisms rs2296793 and rs3842225 in a Chinese population with cervical dystonia.
作者信息
Zhou Qingqing, Chen Yongping, Yang Jing, Cao Bei, Wei Qianqian, Ou Ruwei, Song Wei, Zhao Bi, Wu Ying, Shang Huifang
机构信息
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
出版信息
Neurosci Lett. 2016 Jan 26;612:185-188. doi: 10.1016/j.neulet.2015.12.030. Epub 2015 Dec 15.
BACKGROUND
TOR1A (torsinA, DYT1) is the leading cause of early-onset generalized dystonia, however, the associations between common TOR1A single nucleotide polymorphisms (SNPs) and primary adult-onset focal dystonia are controversial.
METHODS
In a cohort of 201 focal cervical dystonia (CD) patients, we genotyped rs2296793 and rs3842225 SNPs in TOR1A using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis. We also included 289 unrelated, age- and sex-matched healthy controls (HCs) from the same region.
RESULT
No significant differences were found in either the genotype distributions or minor allele frequencies (MAFs) of rs2296793 and rs3842225 between CD patients and HCs. There were no significant differences between early-onset and late-onset CD patients, between patients with and without a positive family history of dystonia, or between patients with and without tremor or sensory tricks.
CONCLUSION
Our study suggests that the common rs2296793 and rs3842225 SNPs of TOR1A do not play a major role in CD in a Chinese population.
背景
TOR1A（扭转蛋白A，DYT1）是早发性全身性肌张力障碍的主要病因，然而，常见的TOR1A单核苷酸多态性（SNP）与原发性成人发病局灶性肌张力障碍之间的关联存在争议。
方法
在一组201例局灶性颈部肌张力障碍（CD）患者中，我们采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析对TOR1A中的rs2296793和rs3842225 SNP进行基因分型。我们还纳入了来自同一地区的289名无亲缘关系、年龄和性别匹配的健康对照（HC）。
结果
在CD患者和HC之间，rs2296793和rs3842225的基因型分布或次要等位基因频率（MAF）均未发现显著差异。早发性和晚发性CD患者之间、有和没有肌张力障碍家族史阳性的患者之间、有和没有震颤或感觉技巧的患者之间均无显著差异。
结论
我们的研究表明，在中国人群中，TOR1A常见的rs2296793和rs3842225 SNP在CD中不发挥主要作用。
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