TOR1A基因多态性rs1182与原发性眼睑痉挛扩散风险
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.
作者信息
Defazio Giovanni, Matarin Mar, Peckham Elizabeth L, Martino Davide, Valente Enza M, Singleton Andrew, Crawley Anthony, Aniello Maria Stella, Brancati Francesco, Abbruzzese Giovanni, Girlanda Paolo, Livrea Paolo, Hallett Mark, Berardelli Alfredo
机构信息
Department of Neurological and Psychiatric Sciences, University of Bari, Policlinico, Piazza Giulio Cesare, Bari 1 70124, Italy.
出版信息
Mov Disord. 2009 Mar 15;24(4):613-6. doi: 10.1002/mds.22471.
We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan-Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread.
我们在两个具有代表性的原发性睑痉挛（BSP）患者队列中研究了TOR1A基因rs1182多态性对肌张力障碍扩散风险的影响，一个队列来自意大利，另一个来自美国。通过Kaplan-Meier生存曲线和经年龄、性别、BSP发病年龄校正的Cox比例风险回归模型，估计rs1182多态性与扩散之间的关系。在两个队列中，rs1182多态性中携带T等位基因（G/T或T/T）的患者与常见G等位基因的纯合携带者相比，更有可能出现肌张力障碍扩散。在两个独立队列中获得的类似结果支持基因对BSP扩散的影响。
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