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重复序列和单核苷酸多态性与帕金森病的抑郁及静止性震颤相关:一项探索性研究

Repeat and Single-Nucleotide Polymorphisms Are Associated With Depression and Rest Tremor in Parkinson's Disease: An Exploratory Study.

作者信息

Wang Jian-Yong, Fan Qian-Ya, He Jia-Hui, Zhu Shi-Guo, Huang Chen-Ping, Zhang Xiong, Zhu Jian-Hong

机构信息

Department of Neurology, The First People's Hospital of Jiande, Hangzhou, China.

Department of Geriatrics and Neurology, The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.

出版信息

Front Neurol. 2019 Apr 9;10:333. doi: 10.3389/fneur.2019.00333. eCollection 2019.

Abstract

Level of serotonin is mainly regulated by the serotonin reuptake transporter encoded by . The promoter region of bears a repeat polymorphism 5-HTTLPR and a single nucleotide polymorphism rs25531. We have previously studied the association between these two variants and sporadic PD. The objective of the current study was to determine whether the polymorphisms were associated with key motor and non-motor symptoms of PD. A total of 370 PD patients of Han Chinese were included. Associations between the polymorphisms and PD symptoms including depression, intellectual impairment, tremor and rigidity were analyzed. 5-HTTLPR was associated with depression in PD patients and presence of the LL genotype was protective against the depression risk. The rs25531 was associated with rest tremor in PD and the A allele serves as a recessive risk allele. No associations were found in the two polymorphisms with respect to intellectual impairment and rigidity in the cohort. The current study reveals two PD symptoms associated with polymorphisms, and provides new insight into how serotonergic system genetically participates in the symptomatic progression of PD. Further study is warranted in additional populations.

摘要

血清素水平主要由 所编码的血清素再摄取转运体调节。 的启动子区域存在一个重复多态性5-HTTLPR和一个单核苷酸多态性rs25531。我们之前已经研究了这两个变体与散发性帕金森病之间的关联。本研究的目的是确定 多态性是否与帕金森病的关键运动和非运动症状相关。共纳入了370名汉族帕金森病患者。分析了 多态性与帕金森病症状(包括抑郁、智力障碍、震颤和强直)之间的关联。5-HTTLPR与帕金森病患者的抑郁相关,LL基因型的存在可预防抑郁风险。rs25531与帕金森病的静止性震颤相关,A等位基因是隐性风险等位基因。在该队列中,未发现这两个多态性与智力障碍和强直有关。本研究揭示了与 多态性相关的两种帕金森病症状,并为血清素能系统如何在基因层面参与帕金森病的症状进展提供了新的见解。有必要在更多人群中进行进一步研究。

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