Mashhour Mahinaz A, Youssef Ibrahim, Wahed Manal Abdel, Mabrouk Mai S
Biomedical Engineering Department, Misr University for Science and Technology, Giza, Egypt.
Systems and Biomedical Engineering Department, Cairo University, Giza, Egypt.
J Mol Neurosci. 2025 May 13;75(2):66. doi: 10.1007/s12031-025-02350-7.
Imaging genetics is one of the important keys to precision medicine that leads to personalized treatment based on a patient's genetics, phenotype, or psychosocial characteristics. It deepens the understanding of the mechanisms through which genetic variations contribute to neurological and psychiatric disorders. This systematic review overviews the methods and applications of imaging genetics in the context of neurological diseases, mentioning its potential role in personalized medicine. Following PRISMA guidelines, this review systematically analyzes 28 studies integrating genetic and neuroimaging data to explore disease mechanisms and their implications for precision medicine. Selected research included multiple neurological disorders, including frontotemporal dementia, Alzheimer's disease, bipolar disorder, schizophrenia, Parkinson's disease, and others. Voxel-based morphometry was the most common imaging technique, while frequently examined genetic variants included APOE, C9orf72, MAPT, GRN, COMT, and BDNF. Associations between these variants and regional gray matter loss (e.g., frontal, temporal, or subcortical regions) suggest that genetic risk factors play a key role in disease pathophysiology. Integrating genetic and neuroimaging analyses enhances our understanding of disease mechanisms and supports advancements in precision medicine.
影像遗传学是精准医学的重要关键之一，它能基于患者的基因、表型或心理社会特征实现个性化治疗。它深化了我们对基因变异导致神经和精神疾病机制的理解。本系统综述概述了影像遗传学在神经疾病背景下的方法和应用，并提及了它在个性化医学中的潜在作用。遵循PRISMA指南，本综述系统分析了28项整合基因和神经影像数据的研究，以探索疾病机制及其对精准医学的影响。所选研究包括多种神经疾病，如额颞叶痴呆、阿尔茨海默病、双相情感障碍、精神分裂症、帕金森病等。基于体素的形态测量是最常用的影像技术，而经常检测的基因变异包括APOE、C9orf72、MAPT、GRN、COMT和BDNF。这些变异与区域灰质损失（如额叶、颞叶或皮质下区域）之间的关联表明，遗传风险因素在疾病病理生理学中起关键作用。整合基因和神经影像分析可增强我们对疾病机制的理解，并支持精准医学的发展。
