Department of Neurology, Affiliated Brain Hospital of Nanjing Medical University, Nanjing, PR China.
Sleep Med. 2012 Mar;13(3):297-300. doi: 10.1016/j.sleep.2011.06.023. Epub 2012 Jan 17.
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).
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.
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.
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.
昼夜节律机制在睡眠调节中起着重要作用。节律钟控制基因 Tef 被认为与睡眠障碍患者的抑郁症状、不安腿综合征和慢波睡眠有关。本研究旨在探讨 Tef 与帕金森病(PD)患者睡眠障碍的关系。
本研究招募了 392 名无关的 PD 患者。他们都完成了 PD 睡眠量表(PDSS)和其他临床及人口统计学评估。通过聚合酶链反应-限制性片段长度多态性,对 Tef 基因的单核苷酸多态性 rs738499 进行基因分型。
TT 基因型的总 PDSS 评分平均值为 111.5(标准差[SD]23.0),TG+GG 基因型的总 PDSS 评分平均值为 122.2(SD18.2)(P<0.01)。在 14 个项目评分中,基因型(TT 与 TG+GG)之间存在显著差异(均 P<0.05)。总评分和项目评分与 TT 基因型呈负相关(均 P<0.05),除项目 2(P=0.178)外。经性别、病程、抑郁和疾病严重程度调整的线性回归显示,该多态性可以解释 PDSS 评分的 0.9%的方差。
这些初步结果表明,Tef rs738499 的 TT 基因型与 PD 中的睡眠障碍有关。抑郁和疾病严重程度是这些发现的主要原因,但 rs738499 本身是一个独立的危险因素。