BDNF基因多态性与帕金森病震颤症状及认知功能的关联分析  

The association of BDNF gene polymorphism with tremor symptoms and cognitive function in Parkinson's disease

作　　者：王雪晴 吴瑕 张淑琴 张力辉 孙树敏 罗晓晨 Wang Xueqing;Wu Xia;Zhang Shuqin;Zhang Lihui;Sun Shumin;Luo Xiaochen(Department of Brain Disease,Qinhuangdao Integrated Traditional Chinese and Western Medicine Hospital,Hebei 066003,China)

机构地区：[1]秦皇岛中西医结合医院脑病一科,河北066003 [2]秦皇岛中西医结合医院心血管病科,河北066003

出　　处：《脑与神经疾病杂志》2025年第4期240-244,共5页Journal of Brain and Nervous Diseases

基　　金：秦皇岛市科学技术研究与发展计划(202301A121)。

摘　　要：目的探讨脑源性神经营养因子(BDNF)基因多态性与帕金森病(PD)患者震颤症状及认知功能的关系。方法选取2020年12月至2023年12月在秦皇岛中西医结合医院心血管病科接受治疗的原发性PD患者203例作为研究对象。收集患者临床资料,根据患者临床症状分为震颤组(n=62)、强直组(n=49)与混合组(n=92),根据患者蒙特利尔认知测试(MoCA)量表评分将患者分为认知正常组(n=135)与认知障碍组(n=68),比较不同组别患者临床资料、BDNF基因Prs6265位点基因多态性,分析BDNF基因Prs6265位点基因多态性与PD患者震颤症状与认知功能的关系。结果原发性PD患者BDNF基因Prs6265位点基因型频率分布符合Hardy-Weinberg平衡法则(P>0.05);不同症状PD患者临床资料、携带BDNF基因Prs6265位点基因型和等位基因频率比较,差异均无统计学意义(P>0.05);认知障碍组患者受教育年限短于认知正常组,统一PD评定量表Ⅲ评分、自主神经症状量表评分高于认知正常组(P<0.05);低受教育年限是PD患者认知障碍的独立影响因素(P<0.05);认知障碍组患者携带BDNF基因Prs6265位点Met/Met基因型和Met等位基因的频率高于认知正常组(P<0.05);携带Prs6265位点Met/Met基因型及Met等位基因的PD患者认知障碍易感性分别增加1.956倍、1.520倍。结论BDNF基因Prs6265位点并未在PD患者震颤症状的产生中发挥作用,但其与PD患者认知功能密切相关,携带Met/Met基因型及Met等位基因的PD患者更易出现认知功能障碍,此外,低受教育年限也是导致PD患者认知功能障碍的重要因素。Objective To investigate the relationship among the polymorphism of brain-derived neurotrophic factor(BDNF)gene and the symptoms of tremor,cognitive function in patients with Parkinson's disease(PD).Methods A total of 203 patients with PD who received treatment in our hospital from December2020 to December 2023 were retrospectively selected as the study objects.Clinical data of patients were collected and divided into tremor group(n=62),tetanus group(n=49)and mixed group(n=92)according to clinical symptoms.According to the scores of the Montreal Cognitive Assessment(MoCA),the patients were divided into cognitive normal group(n=135)and cognitive impairment group(n=68).The clinical data and polymorphism of BDNF gene Prs6265 locus in different groups were compared,and the relationship among BDNF gene Prs6265locus polymorphism and tremor symptoms,cognitive function in PD patients.Results The genotype frequency distribution of Prs6265 locus of BDNF gene in patients with PD was consistent with Hardy-Weinberg balance rule(P>0.05);There was no statistically significant difference in clinical data,genotype and allele frequency of BDNF Prs6265 locus in patients with different symptoms of PD(P>0.05);The cognitive impairment group had shorter years of education than the cognitive normal group,and had higher scores of the Unified Parkinson's disease Rating ScaleⅢ(UPDRSⅢ)and the scale for outcomes in PD for autonomic symptoms(SCOPA-AUT)(P<0.05);Low years of education was an independent factor of cognitive impairment in PD patients(P<0.05);The frequency of Met/Met genotype and Met allele at Prs6265 locus of BDNF gene in cognitive impairment group was higher than that in cognitive normal group(P<0.05).PD patients carrying Prs6265 locus Met/Met genotype and Met allele were 1.956times and 1.520 times more susceptible to cognitive impairment,respectively.Conclusions Prs6265 locus of BDNF gene does not play a role in the production of tremor symptoms in patients with Parkinson's disease,but it is closely related to cognitive fun

关 键 词：脑源性神经营养因子 基因多态性 帕金森病 静止性震颤 认知功能 

分 类 号：R742.5[医药卫生—神经病学与精神病学]