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

IF 2.7 4区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY Mammalian Genome Pub Date : 2024-12-01 Epub Date: 2024-08-24 DOI:10.1007/s00335-024-10065-0
Jiaxin Yang, Chao Tang
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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.

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成像表型与神经退行性疾病之间的因果关系:孟德尔随机研究。
神经退行性疾病是一种无法治愈的疾病,会导致患者大脑功能逐渐退化。随着人口老龄化的加剧,这些疾病的发病率预计会越来越高,给社会带来巨大的经济负担。成像技术在诊断和监测神经退行性疾病方面发挥着至关重要的作用。本研究利用双样本孟德尔随机化(MR)分析评估大脑中不同成像衍生表型(IDP)与神经退行性疾病之间的因果关系。研究采用了多种孟德尔随机分析方法,以尽量减少偏差,并获得相关变量暴露与结果之间潜在因果关系的可靠估计值。研究发现了不同的 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)和额颞叶痴呆症(FTD)之间的潜在因果关系。具体来说,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 种不同类型的成像衍生表型与 ALS、1 种类型的 IDP 与 MS 以及 1 种类型的 IDP 与 FTD 之间的潜在因果关系。这项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,为了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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来源期刊
Mammalian Genome
Mammalian Genome 生物-生化与分子生物学
CiteScore
4.00
自引率
0.00%
发文量
33
审稿时长
6-12 weeks
期刊介绍: Mammalian Genome focuses on the experimental, theoretical and technical aspects of genetics, genomics, epigenetics and systems biology in mouse, human and other mammalian species, with an emphasis on the relationship between genotype and phenotype, elucidation of biological and disease pathways as well as experimental aspects of interventions, therapeutics, and precision medicine. The journal aims to publish high quality original papers that present novel findings in all areas of mammalian genetic research as well as review articles on areas of topical interest. The journal will also feature commentaries and editorials to inform readers of breakthrough discoveries as well as issues of research standards, policies and ethics.
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