[1]谷晓源,车祥源,马　静,等.过氧化物酶体增殖物激活受体γ辅激活剂-1α rs2946385基因多态性与帕金森病的相关性[J].新乡医学院学报,2021,38(9):822-827.[doi:10.7683/xxyxyxb.2021.09.005]
　GU Xiaoyuan,CHE Xiangyuan,MA Jing,et al.Correlation between peroxisome proliferator-activated receptor γ coactivator 1α rs2946385 gene polymorphism and Parkinson′s disease[J].Journal of Xinxiang Medical University,2021,38(9):822-827.[doi:10.7683/xxyxyxb.2021.09.005]
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过氧化物酶体增殖物激活受体γ辅激活剂-1α rs2946385基因多态性与帕金森病的相关性
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《新乡医学院学报》[ISSN:1004-7239/CN:41-1186/R]

卷:
38
期数:
2021年9
页码:
822-827
栏目:
临床研究
出版日期:
2021-09-05

文章信息/Info

Title:
Correlation between peroxisome proliferator-activated receptor γ coactivator 1α rs2946385 gene polymorphism and Parkinson′s disease
作者:
谷晓源1; 2; 车祥源1; 2; 马　静1; 3; 宋净洋1; 2; 邢红霞1; 4; 李超堃1; 3
（1.河南省神经修复重点实验室，河南　新乡　453000；2.新乡医学院第一附属医院神经内科，河南　卫辉　453100；3.新乡医学院基础医学院生理学与神经生物学教研室，河南　新乡　453003；4.新乡医学院第三附属医院神经内科，河南　新乡　453003）
Author(s):
GU Xiaoyuan1; 2; CHE Xiangyuan1; 2; MA Jing1; 3; SONG Jingyang1; 2; XING Hongxia1; 4; LI Chaokun1; 3
(1.Key Laboratory of Nerve Repair of Henan Province，Xinxiang 453000，Henan Province，China；2.Department of Neurology，the First Affiliated Hospital of Xinxiang Medical University，Weihui 453100，Henan Province，China；3.Department of Physiology and Neurobiology，School of Basic Medicine，Xinxiang Medical University， Xinxiang 453003,Henan Province，China4.Department of Neurology,the Third Affiliated Hospital of Xinxiang Medical University， Xinxiang 453003,Henan Province，China)
关键词:
帕金森病; 基因多态性; 过氧化物酶体增殖物激活受体γ辅激活剂-1α
Keywords:
Parkinson′s disease; gene polymorphism; peroxisome proliferator-activated receptor γ coactivator 1α
分类号:
R742.5
DOI:
10.7683/xxyxyxb.2021.09.005
文献标志码:
A
摘要:
目的　探讨过氧化物酶体增殖物激活受体γ辅激活剂-1α（PGC-1α） rs2946385基因多态性与帕金森病（PD）发病风险及患者焦虑、认知的关系。方法　选择2018年３月至2019年12月就诊于新乡医学院第一附属医院的86例PD患者(PD组)及86例健康体检人员（对照组）为研究对象。PD组患者根据运动症状分为强直少动型（AR-PD）组（n=44）和震颤为主型（TD-PD）组（n=42）。采用汉密尔顿抑郁量表(HAMD)、汉密尔顿焦虑量表（HAMA）、统一帕金森病评定量表第三部分（UPDRS-Ⅲ）运动评分、简易精神状态评价量表（MMSE）及蒙特利尔认知评估量表（MoCA）分别来评估PD患者的抑郁状态、焦虑状态运动功能及认知功能。取受试者外周静脉血提取基因组DNA，采用聚合酶链反应法扩增目的基因片段，并进行DNA测序，寻找突变。应用Chromas软件对rs2946385位点进行基因分型。结果　PD组患者中认知功能下降、焦虑、抑郁患者所占比例显著高于对照组（P＜0.05）。AR-PD组与TD-PD组患者中焦虑、抑郁患者所占比例比较差异均无统计学意义（P＞0.05），AR-PD组患者中认知功能下降患者所占比例显著高于TD-PD组（P＜0.05）。PD组患者与对照组CC基因型、等位基因C频率比较差异无统计学意义（P＞0.05）。AR-PD组与TD-PD组患者CC基因型、等位基因C频率比较差异均无统计学意义（P＞0.05）。PD组中合并焦虑与不合并焦虑患者的基因型和等位基因分布比较差异均无统计学意义（P＞0.05）。TD-PD组合并焦虑与不合并焦虑患者的基因型和等位基因分布比较差异无统计学意义（P＞0.05）。AR-PD组合并焦虑患者中基因型CC患者所占比例及等位基因C频率显著低于不合并焦虑患者（P＜0.05）。 PD组、TD-PD组、AR-PD组合并认知功能下降与不合并认知功能下降患者的基因型和等位基因分布比较差异均无统计学意义（P＞0.05）。年龄、性别、病程、PGC-1α rs2946385不是AR-PD合并焦虑的独立危险因素（P＞0.05），UPDRS-Ⅲ评分的严重程度是AR-PD合并焦虑的独立危险因素（P＜0.05）。结论　PGC-1α rs2946385基因多态性可能不是PD患者发病的主要致病位点。
Abstract:
Objective　To investigate the association of peroxisome proliferator-activated receptor γ coactivator 1α （PGC-1α） rs2946385 gene polymorphism with onset risk,anxiety and cognitive function of patients with Parkinson′s disease(PD).Methods　Eighty-six PD patients（PD group） and 86 health examiners(control group) in the First Affiliated Hospital of Xinxiang Medical University from March 2018 to December 2019 were selected as study objects.The patients in PD group were divided into rigidity dominant PD（AR-PD）group (n=44) and tremor dominant PD（TD-PD） group (n=42) according to the motor symptoms.Hamilton depression scale (HAMD),hamilton anxiety scale (HAMA),unified Parkinson′s disease rating scale part Ⅲ (UPDRS-Ⅲ) motor score,mini mental state exam(MMSE) and Montreal cognitive assessment (MoCA) were used to evaluate the depression,anxiety,motor function and cognitive function of PD patients.Peripheral venous blood was taken from all the subjects to extract genomic DNAthe target gene fragment was amplified by polymerase chain reaction and the DNA was sequenced to find the mutation.The rs2946385 locus was genotyped by Chromas software.Results　The proportion of patients with cognitive decline,anxiety and depression in PD group was significantly higher than that in the control group (P<0.05).There was no significant difference in the proportion of patients with anxiety,depression between AR-PD group and TD-PD group (P>0.05).The proportion of patients with decreased cognitive function in AR-PD group was significantly higher than that in the TD-PD group (P<0.05).There was no significant difference in CC genotype and allele C frequency between PD group and control group (P>0.05).There was no significant difference in CC genotype and allele C frequency between AR-PD group and TD-PD group (P>0.05).There was no significant difference in genotype and allele distribution between patients with and without anxiety in PD group (P>0.05).There was no significant difference in genotype and allele distribution between patients with and without anxiety in TD-PD group (P>0.05).The proportion of genotype CC and allele C frequency in patients with AR-PD combined with anxiety were significantly lower than those without anxiety (P<0.05).There was no significant difference in genotype and allele distribution between patients with cognitive decline and without cognitive decline in PD group,TD-PD group amd AR-PD group (P>0.05).Age,sex,course of disease,PGC-1 α rs2946385 were not independent risk factor for AR-PD complicated with anxiety (P>0.05),and the severity of UPDRS-Ⅲ score was an independent risk factor for AR-PD complicated with anxiety (P<0.05).Conclusion　The PGC-1α rs2946385 gene polymorphism is not the main pathogenic factor in the pathogenesis of PD patients.

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更新日期/Last Update: 2021-09-05