1.1)上海理工大学医疗器械与食品学院,上海 200082;2.2)上海健康医学院医学影像学院,上海 201308;3.3)上海健康医学院,上海市分子影像学重点实验室,上海 201308
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国家自然科学基金重点项目(81830052),国家自然科学基金面上项目(61971275)
1.1)School of Medical Instrument and Food Engineering, University of Shanghai for Science and Technology, Shanghai 200082, China;2.2)College of Medical Imaging, Shanghai University of Medicine and Health Sciences, Shanghai 201308, China;3.3)Shanghai Key Laboratory of Molecular Imaging, Shanghai University of Medicine and Health Sciences, Shanghai 201308, China
This work was supported by grants from The National Natural Science Foundation of China (61971275, 81830052), Key Laboratory Construction Program of Molecular Imaging (18DZ2260400).
阿尔茨海默病(Alzheimer disease,AD)是一种神经退行性疾病,其发病与遗传和环境因素相关,约70%由遗传因素引起,但其发病机制尚不清楚. 随着高通量测序技术的出现,利用机器学习(machine learning,ML)技术处理遗传数据的研究成为了当前热点. 本文综述ML在AD中的应用研究,主要包括:遗传数据与影像、临床、组学等多模数据结合的AD诊断和预后;对单核苷酸多态性(single nucleotide polymorphism,SNP)数据挖掘发现与AD风险相关基因的遗传变异分析;与AD发病机制密切相关的基因表达谱分析. 最后,应用高质量、综合性、大样本量数据,建立多层次ML模型探究AD的发病机制将是未来研究的重点.
Alzheimer’s disease (AD), a neurodegenerative disease, is closely related to the genetic and environmental factors, about 70% of which are caused by the genetic factors, but its pathogenesis is still unclear. Along with the advent of high-throughput gene sequencing, the processing of genetic data using machine learning (ML) has become a hot spot. In this paper, the applications of ML in AD are mainly reviewed, including the diagnosis and prognosis of AD based on genetic data, the analysis of genetic variation of AD, the analysis of gene expression profile of AD, and the further development of ML for AD. Firstly, during the diagnosis and prognosis of AD, the genetic data combining with other modalities, such as imaging data, clinical data and histological data, would be greatly improved the accuracy of ML methods. It is valuable for the early diagnosis of AD, and effectively delays the progression of AD. Secondly, the application of ML in the analysis of genetic variation of AD, single nucleotide polymorphisms (SNPs) of new genes were dug out, and the pathogenic mechanism of AD was further explored. Thirdly, the analysis of gene expression profile of AD mainly focuses on the discovery of the pathways of genes which could provide the possibility of gene targets for AD therapy. In the future, the multi-level model of ML might be developed for high-quality, diverse and large data, and provide scientific strategies for exploring the pathogenesis of AD.
金宇,姚旭峰,韩立婷,赵从义,黄钢.基于遗传数据的机器学习在阿尔茨海默病研究中的应用[J].生物化学与生物物理进展,2021,48(8):888-897
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