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基于组学的生物标志物在阿尔茨海默病中的研究进展:从生物信息学角度看统计方法与机器学习方法的比较。

A review on omics-based biomarkers discovery for Alzheimer's disease from the bioinformatics perspectives: Statistical approach vs machine learning approach.

机构信息

Bioinformatics Programme, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia.

Department of Pathology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

出版信息

Comput Biol Med. 2021 Dec;139:104947. doi: 10.1016/j.compbiomed.2021.104947. Epub 2021 Oct 14.

DOI:10.1016/j.compbiomed.2021.104947
PMID:34678481
Abstract

Alzheimer's Disease (AD) is a neurodegenerative disease that affects cognition and is the most common cause of dementia in the elderly. As the number of elderly individuals increases globally, the incidence and prevalence of AD are expected to increase. At present, AD is diagnosed clinically, according to accepted criteria. The essential elements in the diagnosis of AD include a patients history, a physical examination and neuropsychological testing, in addition to appropriate investigations such as neuroimaging. The omics-based approach is an emerging field of study that may not only aid in the diagnosis of AD but also facilitate the exploration of factors that influence the development of the disease. Omics techniques, including genomics, transcriptomics, proteomics and metabolomics, may reveal the pathways that lead to neuronal death and identify biomolecular markers associated with AD. This will further facilitate an understanding of AD neuropathology. In this review, omics-based approaches that were implemented in studies on AD were assessed from a bioinformatics perspective. Current state-of-the-art statistical and machine learning approaches used in the single omics analysis of AD were compared based on correlations of variants, differential expression, functional analysis and network analysis. This was followed by a review of the approaches used in the integration and analysis of multi-omics of AD. The strengths and limitations of multi-omics analysis methods were explored and the issues and challenges associated with omics studies of AD were highlighted. Lastly, future studies in this area of research were justified.

摘要

阿尔茨海默病(AD)是一种神经退行性疾病,会影响认知能力,是老年人中最常见的痴呆症病因。随着全球老年人口数量的增加,预计 AD 的发病率和流行率将会上升。目前,AD 的临床诊断依据是公认的标准。AD 的诊断要素包括患者病史、体格检查和神经心理学测试,以及神经影像学等适当的检查。基于组学的方法是一个新兴的研究领域,不仅有助于 AD 的诊断,还有助于探索影响疾病发展的因素。组学技术,包括基因组学、转录组学、蛋白质组学和代谢组学,可能揭示导致神经元死亡的途径,并确定与 AD 相关的生物分子标志物。这将进一步促进对 AD 神经病理学的理解。在这篇综述中,从生物信息学的角度评估了在 AD 研究中实施的基于组学的方法。基于变异相关性、差异表达、功能分析和网络分析,比较了目前用于 AD 单一组学分析的最先进的统计和机器学习方法。之后,还综述了 AD 多组学整合和分析中使用的方法。探讨了多组学分析方法的优缺点,并强调了 AD 组学研究中存在的问题和挑战。最后,为该领域的未来研究提供了依据。

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