影像转录组关联研究在神经退行性疾病中的研究进展  

Advances in imaging-transcriptomics association studies in neurodegenerative diseases

作　　者：季懿 卢刘佳 方向明 JI Yi;LU Liujia;FANG Xiangming(Department of Medical Imaging,the Affiliated Wuxi People's Hospital of Nanjing Medical University,Wuxi 214023,China)

机构地区：[1]南京医科大学附属无锡人民医院医学影像科,无锡214023

出　　处：《磁共振成像》2025年第4期139-144,共6页Chinese Journal of Magnetic Resonance Imaging

基　　金：江苏省自然科学基金项目(编号:BK20191143);南京医科大学无锡医学中心2024年专病队列和临床研究项目(编号:WMCCJ202402)。

摘　　要：多模态磁共振成像等影像技术已广泛应用于检测神经退行性疾病患者的脑表型变化,然而,这些表型变化背后的基因表达机制仍未明晰。近年来,随着人类全脑转录组数据(例如艾伦人脑转录组图谱)的发表,影像转录组关联研究这一致力于弥合宏观神经影像表型与微观分子基因表达之间鸿沟的交叉领域逐渐兴起,并在神经退行性疾病研究中取得了一定成果。本文系统综述了影像转录组关联研究的方法学框架及其在阿尔茨海默病、帕金森病、亨廷顿病等疾病中的最新进展,旨在为神经退行性疾病研究者提供跨尺度研究的理论工具,并为解析疾病机制、开发靶向治疗策略提供新视角。The application of multimodal MRI and other imaging techniques to detect brain phenotypic alterations in patients with neurodegenerative diseases has become pervasive in clinical diagnosis and scientific research.However,the genetic mechanisms underlying these brain phenotypic changes still remain unknown.In recent years,with the advent of brain-wide transcriptomics data(i.e.,the Allen Human Brain Atlas),the field of imaging-transcriptomics association studies has emerged as a cross-disciplinary area aiming to bridge the gap between macroscopic neuroimaging phenotypes and microscopic molecular expression,which has achieved certain advancements.This review systematically summarizes the methodological framework of imaging transcriptome association studies and its latest advances in Alzheimer's disease,Parkinson's disease,Huntington's disease and other diseases,aiming to provide researchers with neurodegenerative disease researchers with theoretical tools for cross-scale research,and provide new perspectives for elucidating disease mechanisms and developing targeted therapy strategies.

关 键 词：神经退行性疾病 影像转录组关联研究 艾伦人类脑图谱 多模态磁共振成像 磁共振成像 基因表达 

分 类 号：R445.2[医药卫生—影像医学与核医学] R741[医药卫生—诊断学]