SLC6A4 Repeat and Single-Nucleotide Polymorphisms Are Associated With Depression and Rest Tremor in Parkinson's Disease: An Exploratory Study
SLC6A4 Repeat and Single-Nucleotide Polymorphisms Are Associated With Depression and Rest Tremor in Parkinson's Disease: An Exploratory Study
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SLC6A4 重复和单核苷酸多态性与帕金森病抑郁和静止性震颤相关：一项探索性研究
DOI：
10.3389/fneur.2019.00333
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发表时间：
2019
影响因子：
3.4
通讯作者：
Zhu Jian Hong
中科院分区：
文献类型：
--
作者：
Wang Jian Yong;Fan Qian Ya;He Jia Hui;Zhu Shi Guo;Huang Chen Ping;Zhang Xiong;Zhu Jian Hong
前言：5-羟色胺水平主要受SLC6A4编码的5-羟色胺再摄取转运体的调节。SLC6A4基因启动子区域具有重复多态5-HTTLPR和单核苷酸多态rs25531。我们以前曾研究过这两个变种与散发性帕金森病之间的关系。本研究的目的是确定SLC6A4基因多态性是否与帕金森病的关键运动和非运动症状相关。方法：研究对象为370例汉族帕金森病患者。分析SLC6A4基因多态性与抑郁、智能障碍、震颤、僵硬等帕金森病症状的关系。结果：5-HTTLPR与帕金森病患者的抑郁相关，存在L1基因对抑郁风险具有保护作用。Rs25531与帕金森病的静止性震颤相关，A等位基因为隐性风险等位基因。在队列中，没有发现这两个多态与智力损害和僵硬有关。结论：本研究揭示了两种与SLC6A4基因多态性相关的帕金森病症状，并为5-羟色胺能系统如何参与帕金森病症状性进展提供了新的见解。有必要在更多的人群中进行进一步的研究。
Introduction: Level of serotonin is mainly regulated by the serotonin reuptake transporter encoded by SLC6A4. The promoter region of SLC6A4 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 SLC6A4 polymorphisms were associated with key motor and non-motor symptoms of PD. Methods: A total of 370 PD patients of Han Chinese were included. Associations between the SLC6A4 polymorphisms and PD symptoms including depression, intellectual impairment, tremor and rigidity were analyzed. Results: 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. Conclusion: The current study reveals two PD symptoms associated with SLC6A4 polymorphisms, and provides new insight into how serotonergic system genetically participates in the symptomatic progression of PD. Further study is warranted in additional populations.