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Tef polymorphism is associated with sleep disturbances in patients with Parkinson's disease

机译:Tef基因多态性与帕金森氏病患者的睡眠障碍有关

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Objective: Circadian mechanisms play an important role in the regulation of sleep. A circadian clock-controlled gene, Tef, has been suggested to be associated with depressive symptoms, restless legs syndrome, and slow wave sleep in patients with sleep disorders. The present study sought to explore the association between Tef and sleep disturbances in patients with Parkinson's disease (PD). Methods: Three hundred and ninety-two unrelated patients with PD were recruited for this study. All of them completed the PD Sleep Scale (PDSS) and other clinical and demographic assessments. rs738499, a single nucleotide polymorphism of the Tef gene, was genotyped by polymerase chain reaction-restriction fragment length polymorphism. Results: Mean total PDSS scores were 111.5 (standard deviation [SD] 23.0) in the TT genotype and 122.2 (SD 18.2) in the TG+GG genotypes (P< 0.01). Significant differences were found between genotypes (TT vs TG+GG) for 14 item scores (all P< 0.05). Total and item scores displayed negative associations with the TT genotype (all P< 0.05) except Item 2 (P= 0.178). Linear regression adjusted for gender, duration, depression and disease severity showed that the polymorphism could explain 0.9% of the variance in PDSS scores. Conclusions: These preliminary results suggest that the TT genotype in Tef rs738499 is associated with sleep disturbances in PD. Depression and disease severity are the main contributors to these findings, but rs738499 itself is an independent risk factor.
机译:目的:昼夜节律机制在睡眠调节中起着重要作用。已经有人提出,昼夜节律控制的基因Tef与患有睡眠障碍的患者的抑郁症状,腿不安综合症和慢波睡眠有关。本研究试图探讨帕金森病(PD)患者Tef与睡眠障碍之间的关系。方法:招募了392例PD的无关患者。他们都完成了PD睡眠量表(PDSS)以及其他临床和人口统计学评估。 rs738499,Tef基因的一个单核苷酸多态性,通过聚合酶链反应-限制性片段长度多态性进行基因分型。结果:TT基因型的平均PDSS总得分为111.5(标准差[SD] 23.0),TG + GG基因型的平均PDSS总得分为122.2(SD 18.2)(P <0.01)。发现14个项目得分的基因型(TT与TG + GG)之间存在显着差异(所有P <0.05)。总分和项目得分显示与TT基因型呈负相关(所有P <0.05),项目2除外(P = 0.178)。根据性别,持续时间,抑郁和疾病严重程度进行的线性回归分析表明,多态性可以解释PDSS得分差异的0.9%。结论:这些初步结果表明,Tef rs738499中的TT基因型与PD的睡眠障碍有关。抑郁和疾病严重程度是造成这些发现的主要因素,但是rs738499本身是一个独立的危险因素。

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