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遗传标记作为接受多巴胺能治疗的帕金森病患者冲动强迫行为发生的风险因素。

Genetic Markers as Risk Factors for the Development of Impulsive-Compulsive Behaviors in Patients with Parkinson's Disease Receiving Dopaminergic Therapy.

作者信息

Fedosova Anna, Titova Nataliya, Kokaeva Zarema, Shipilova Natalia, Katunina Elena, Klimov Eugene

机构信息

Lomonosov Moscow State University, Faculty of Biology, Leninskie Gory, 1, Building 12, 119234 Moscow, Russia.

Pirogov Russian National Research Medical University, Department of Neurology, Neurosurgery and Medical Genetics, Ostrovitianova, 1, 117997 Moscow, Russia.

出版信息

J Pers Med. 2021 Dec 7;11(12):1321. doi: 10.3390/jpm11121321.

DOI:10.3390/jpm11121321
PMID:34945793
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8706187/
Abstract

Impulsive-compulsive and related behavioral disorders (ICD) are drug-induced non-motor symptoms of Parkinson's disease (PD). Recently research has focused on evaluating whether ICD could be predicted and managed using a pharmacogenetic approach based on dopaminergic therapies, which are the main risk factors. The aim of our study was to evaluate the role of candidate genes such as , , , , , , , , gene polymorphisms in the pathogenesis of ICD in PD. We compared patients with PD and ICD ( = 49), patients with PD without ICD ( = 36) and a healthy control group ( = 365). ICD was diagnosed using the QUIP questionnaires and specific diagnostic criteria for subtypes of ICD. Genotyping was conducted using a number of PCR techniques and SNaPshot. Statistical analysis was performed using WinPepi and APSampler v3.6 software. PCA testing was conducted using RStudio software v1.4.1106-5. The following substitutions showed statistically significant correlations with PD and ICD: (rs2097629, rs1611115), (rs6275, rs12364283, rs1076560), (rs4646994), (rs686), (rs6265), these associations are novel in Russian PD patients. Our findings suggest that polymorphisms in , , , genes in Russian subjects are associated with an increased risk of ICD development.

摘要

冲动控制及相关行为障碍(ICD)是帕金森病(PD)的药物诱导性非运动症状。最近的研究集中在评估是否可以基于多巴胺能疗法(这是主要风险因素)采用药物遗传学方法来预测和管理ICD。我们研究的目的是评估候选基因如[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]基因多态性在PD患者ICD发病机制中的作用。我们比较了PD伴ICD患者(n = 49)、无ICD的PD患者(n = 36)和健康对照组(n = 365)。使用QUIP问卷和ICD亚型的特定诊断标准来诊断ICD。采用多种PCR技术和SNaPshot进行基因分型。使用WinPepi和APSampler v3.6软件进行统计分析。使用RStudio软件v1.4.1106 - 5进行主成分分析(PCA)测试。以下替代与PD和ICD显示出统计学上的显著相关性:[此处原文缺失具体基因相关位点](rs2097629,rs1611115)、[此处原文缺失具体基因相关位点](rs6275,rs12364283,rs1076560)、[此处原文缺失具体基因相关位点](rs4646994)、[此处原文缺失具体基因相关位点](rs686)、[此处原文缺失具体基因相关位点](rs6265),这些关联在俄罗斯PD患者中是新发现的。我们的研究结果表明,俄罗斯受试者中[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]、[此处原文缺失具体基因名称]基因的多态性与ICD发生风险增加有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5ed/8706187/12b9d1401e15/jpm-11-01321-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5ed/8706187/12b9d1401e15/jpm-11-01321-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5ed/8706187/12b9d1401e15/jpm-11-01321-g001.jpg

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Int J Mol Sci. 2021 Apr 6;22(7):3781. doi: 10.3390/ijms22073781.
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Dopamine Receptor D2 Gene (DRD2) Polymorphisms, Job Stress, and Their Interaction on Sleep Dysfunction.多巴胺受体 D2 基因(DRD2)多态性、工作压力及其对睡眠功能障碍的交互作用。
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