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影像学衍生表型与神经退行性疾病之间的因果关系:一项孟德尔随机化研究。

Causal relationship between imaging-derived phenotypes and neurodegenerative diseases: a Mendelian randomization study.

机构信息

School of Clinical Medicine, Guizhou Medical University, Guiyang, 550000, Guizhou, China.

School of Clinical Medicine, Guizhou Medical University, No.28, Guiyi Street, Yunyan District, Guiyang, 550004, Guizhou, China.

出版信息

Mamm Genome. 2024 Dec;35(4):711-723. doi: 10.1007/s00335-024-10065-0. Epub 2024 Aug 24.

Abstract

Neurodegenerative diseases are incurable conditions that lead to gradual and progressive deterioration of brain function in patients. With the aging population, the prevalence of these diseases is expected to increase, posing a significant economic burden on society. Imaging techniques play a crucial role in the diagnosis and monitoring of neurodegenerative diseases. This study utilized a two-sample Mendelian randomization (MR) analysis to assess the causal relationship between different imaging-derived phenotypes (IDP) in the brain and neurodegenerative diseases. Multiple MR methods were employed to minimize bias and obtain reliable estimates of the potential causal relationship between the variable exposures of interest and the outcomes. The study found potential causal relationships between different IDPs and Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), and frontotemporal dementia (FTD). Specifically, the study identified potential causal relationships between 2 different types of IDPs and AD, 8 different types of IDPs and PD, 11 different types of imaging-derived phenotypes and ALS, 1 type of IDP and MS, and 1 type of IDP and FTD. This study provides new insights for the prevention, diagnosis, and treatment of neurodegenerative diseases, offering important clues for understanding the pathogenesis of these diseases and developing relevant intervention strategies.

摘要

神经退行性疾病是不可治愈的疾病,会导致患者的大脑功能逐渐和进行性恶化。随着人口老龄化,这些疾病的患病率预计将会增加,给社会带来巨大的经济负担。影像学技术在神经退行性疾病的诊断和监测中起着至关重要的作用。本研究采用双样本孟德尔随机化(MR)分析来评估大脑中不同的影像衍生表型(IDP)与神经退行性疾病之间的因果关系。采用多种 MR 方法来最小化偏倚,并获得感兴趣的变量暴露与结果之间潜在因果关系的可靠估计。研究发现不同 IDP 与阿尔茨海默病(AD)、帕金森病(PD)、肌萎缩侧索硬化症(ALS)、多发性硬化症(MS)和额颞叶痴呆(FTD)之间存在潜在的因果关系。具体而言,该研究确定了 2 种不同类型的 IDP 与 AD、8 种不同类型的 IDP 与 PD、11 种不同类型的影像衍生表型与 ALS、1 种 IDP 与 MS 和 1 种 IDP 与 FTD 之间存在潜在的因果关系。本研究为神经退行性疾病的预防、诊断和治疗提供了新的见解,为理解这些疾病的发病机制和制定相关干预策略提供了重要线索。

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