The integration of modern neuroimaging methods with genetically informative designs and data can shed light on the molecular mechanisms underlying the structural and functional organization of the human connectome. Here, we review studies that have investigated the genetic basis of human brain network structure and function through three complementary frameworks: (1) the quantification of phenotypic heritability through classical twin designs; (2) the identification of specific DNA variants linked to phenotypic variation through association and related studies; and (3) the analysis of correlations between spatial variations in imaging phenotypes and gene expression profiles through the integration of neuroimaging and transcriptional atlas data. We consider the basic foundations, strengths, limitations, and discoveries associated with each approach. We present converging evidence to indicate that anatomical connectivity is under stronger genetic influence than functional connectivity and that genetic influences are not uniformly distributed throughout the brain, with phenotypic variation in certain regions and connections being under stronger genetic control than others. We also consider how the combination of imaging and genetics can be used to understand the ways in which genes may drive brain dysfunction in different clinical disorders.

现代神经成像方法与遗传信息设计和数据的整合可以揭示人类连接组结构和功能组织的分子机制。在这里，我们回顾了通过三个互补框架研究人类大脑网络结构和功能的遗传基础的研究：（1）通过经典双胞胎设计量化表型遗传力；(2) 通过关联和相关研究鉴定与表型变异相关的特定 DNA 变异；(3) 通过整合神经成像和转录图谱数据，分析成像表型空间变异与基因表达谱之间的相关性。我们考虑与每种方法相关的基本基础、优势、局限性和发现。我们提出了趋同的证据，表明解剖连接比功能连接受到更强的遗传影响，并且遗传影响在整个大脑中分布不均匀，某些区域的表型变异和连接比其他区域受到更强的遗传控制。我们还考虑了成像和遗传学的结合如何用于了解基因在不同临床疾病中驱动脑功能障碍的方式。