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脑源性神经营养因子基因多态性影响皮质下缺血性血管性痴呆患者的认知功能和神经丝轻链水平。

Brain-derived neurotrophic factor gene polymorphism affects cognitive function and neurofilament light chain level in patients with subcortical ischaemic vascular dementia.

作者信息

Yao Xiaojuan, Yang Guotao, Fang Tingting, Tian Zhuo, Lu Yunyao, Chen Feifan, Che Ping, Chen Jingshan, Zhang Nan

机构信息

Department of Neurology, Tianjin Neurological Institute, Tianjin Medical University General Hospital, Tianjin, China.

Department of Neurology, Cangzhou Central Hospital, Cangzhou, China.

出版信息

Front Aging Neurosci. 2023 Oct 9;15:1244191. doi: 10.3389/fnagi.2023.1244191. eCollection 2023.

Abstract

OBJECTIVE

To investigate the effects of brain-derived neurotrophic factor (BDNF) gene polymorphism on cognitive function, neuroimaging and blood biological markers in patients with subcortical ischaemic vascular dementia (SIVD).

METHODS

A total of 81 patients with SIVD were included. According to their BDNF gene polymorphism, the participants were divided into the Val/Val ( = 26), Val/Met ( = 35), and Met/Met ( = 20) groups. A comprehensive neuropsychological evaluation and multimodal brain MRI scan were performed. MRI markers for small vessel disease were visually rated or quantitatively analysed. Moreover, 52 patients were further evaluated with blood marker assays, including amyloid beta (Aβ), phosphorylated tau at threonine-181 (P-tau181), glial fibrillary acidic protein (GFAP), total tau (T-tau) and neurofilament light chain (NfL).

RESULTS

There were no significant differences in demographics, disease duration or MRI markers of small vessel disease between the three groups. Compared with the Val/Val and Val/Met groups, the Met/Met group showed worse performance in the verbal fluency test and higher levels of plasma NfL.

CONCLUSION

The rs6265 polymorphism of the BDNF gene is associated with semantic language fluency in patients with SIVD. The Met genotype may be a risk factor for cognitive impairment and neuronal injury.

摘要

目的

探讨脑源性神经营养因子(BDNF)基因多态性对皮质下缺血性血管性痴呆(SIVD)患者认知功能、神经影像学及血液生物学标志物的影响。

方法

共纳入81例SIVD患者。根据BDNF基因多态性,将参与者分为Val/Val组(n = 26)、Val/Met组(n = 35)和Met/Met组(n = 20)。进行了全面的神经心理学评估和多模态脑MRI扫描。对小血管病的MRI标志物进行视觉评分或定量分析。此外,对52例患者进一步进行血液标志物检测,包括β淀粉样蛋白(Aβ)、苏氨酸181位点磷酸化tau蛋白(P-tau181)、胶质纤维酸性蛋白(GFAP)、总tau蛋白(T-tau)和神经丝轻链(NfL)。

结果

三组在人口统计学、病程或小血管病的MRI标志物方面无显著差异。与Val/Val组和Val/Met组相比,Met/Met组在言语流畅性测试中表现更差,血浆NfL水平更高。

结论

BDNF基因的rs6265多态性与SIVD患者的语义语言流畅性有关。Met基因型可能是认知障碍和神经元损伤的危险因素。

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