Researcher, Centre for Cognition & Decision Making, Institute for Cognitive Neurosciences; National Research University Higher School of Economics, 20 Myasnitskaya St., Moscow, 101000, Russia.
Analyst; Center for Strategic Planning and Management of Biomedical Health Risks of the Federal Medical Biological Agency, 10 Pogodinskaya St., Moscow, 119121, Russia.
Sovrem Tekhnologii Med. 2024;16(1):66-76. doi: 10.17691/stm2024.16.1.07. Epub 2024 Feb 28.
Owing to the advances of neuroimaging techniques, a number of functional brain networks associated both with specific functions and the state of relative inactivity has been distinguished. A sufficient bulk of information has been accumulated on changes in connectivity (links between brain regions) in psychopathologies, for example, depression, schizophrenia, autism. Their genetic markers are being actively investigated using a candidate-gene approach or a genome-wide association study. At the same time, there is not much data considering connectivity as an intermediate link in the genotype-pathology chain, although it seems to be a reliable endophenotype, since it demonstrates a high stability and high heritability. In the present review, we consider the results of investigations devoted to the search for biomarkers, molecular and genetic associations of functional, partially anatomical, and effective connectivity. The main approaches to the evaluation of connectivity neurogenetics have been described, as well as specific genetic variants, for which the association with brain connectivity in psychiatric pathologies has been detected.
由于神经影像学技术的进步,已经区分出了与特定功能和相对不活跃状态相关的许多功能脑网络。已经积累了大量关于精神病理学(例如抑郁症、精神分裂症、自闭症)中连接(大脑区域之间的联系)变化的信息。正在使用候选基因方法或全基因组关联研究积极研究其遗传标记。与此同时,尽管连接似乎是一种可靠的中间表型,但考虑到连接作为基因型-病理学链中的中间环节的相关数据并不多,因为它表现出高度的稳定性和高度的遗传性。在本综述中,我们考虑了致力于寻找生物标志物、功能、部分解剖和有效连接的分子和遗传关联的研究结果。描述了评估连接神经遗传学的主要方法,以及已经检测到与精神病理学中脑连接相关的特定遗传变异。