Sainte-Justine Hospital Research Center, Montreal, Canada; Department of Pediatrics, University of Montreal, Montreal, Canada; Centre de Recherche de l'Institut Universitaire de Gériatrie de Montréal, Montréal, Canada; Human Genetics and Cognitive Functions, CNRS UMR 3571, Université de Paris, Institut Pasteur, Paris, France.
Imaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of the University of Southern California, USA.
Curr Opin Genet Dev. 2021 Jun;68:88-98. doi: 10.1016/j.gde.2021.03.002. Epub 2021 Mar 31.
Copy Number Variants (CNVs) are associated with elevated rates of neuropsychiatric disorders. A 'genetics-first' approach, involving the CNV effects on the brain, irrespective of clinical symptomatology, allows investigation of mechanisms underlying neuropsychiatric disorders in the general population. Recent years have seen an increasing number of larger multisite neuroimaging studies investigating the effect of CNVs on structural and functional brain endophenotypes. Alterations overlap with those found in idiopathic psychiatric conditions but effect sizes are twofold to fivefold larger. Here we review new CNV-associated structural and functional brain alterations and outline the future of neuroimaging genomics research, with particular emphasis on developing new resources for the study of high-risk CNVs and rare genomic variants.
拷贝数变异（CNVs）与神经精神疾病的高发率有关。一种“先遗传学”的方法，即不论临床症状如何，只考虑 CNV 对大脑的影响，可以研究普通人群中神经精神疾病的潜在机制。近年来，越来越多的更大规模的多地点神经影像学研究调查了 CNV 对结构和功能脑内表型的影响。这些改变与特发性精神疾病中发现的改变重叠，但效应大小是其两倍到五倍。在这里，我们综述了与新的 CNV 相关的结构和功能脑改变，并概述了神经影像学基因组学研究的未来，特别强调了为高风险 CNV 和罕见基因组变异的研究开发新资源。
