TOR1A基因中的缺失变异rs35153737与中国西南人群的孤立性肌张力障碍相关。
Deletion variant rs35153737 in TOR1A is associated with isolated dystonia in a Southwestern Chinese Population.
作者信息
Li Jiang, Long Yuzhou, Huang Xiaoqin, Chen Yuan, Chen Weikang, Liu Shang, Chu Jiayou, Yang Zhaoqing, Sun Hao, Fang Kewei
机构信息
Department of Urology Surgery, The Second Affiliated Hospital of Kunming Medical University, Kunming, China.
Department of Neurology, The Fourth Affiliated Hospital of Kunming Medical University, Kunming, China.
出版信息
Neurosci Lett. 2017 Sep 14;657:1-4. doi: 10.1016/j.neulet.2017.07.042. Epub 2017 Jul 26.
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 3'-UTR of TOR1A: NM_000113.2:c.*414delG (rs35153737) and NM_000113.2:c.*824delG (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.
背景
TOR1A在早发性孤立性肌张力障碍中起非常重要的作用。研究该基因常见变异与肌张力障碍之间的关联有助于我们理解TOR1A突变与该疾病之间的联系。
方法
对223例孤立性肌张力障碍患者和210例年龄匹配的对照者的TOR1A外显子5进行测序。患者和对照者均来自中国西南部。
结果
在TOR1A的3'-UTR中发现了以下两种常见变异：NM_000113.2:c.*414delG (rs35153737)和NM_000113.2:c.*824delG (rs3842225)。使用等位基因模型（P=0.035）和显性遗传模型（P=0.018）时，rs35153737变异与肌张力障碍存在统计学显著关联；然而，未发现rs3842225与肌张力障碍之间存在关联。
结论
我们的研究表明，在中国西南部人群中，rs35153737与肌张力障碍之间存在关联，这可能是由于该缺失与TOR1A中潜在致病变异之间的高度连锁不平衡所致。
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