美国北卡罗来纳大学Hongtu Zhu团队近期取得重要工作进展，他们研究发现了常见的变异体有助于人类大脑固有的功能网络。相关论文2022年4月7日在线发表于《自然—遗传学》杂志上。

在这里，研究人员使用来自47,276个人的静息状态功能磁共振图像来发现和验证影响内在大脑活动的常见遗传变异。研究人员确定了45个与大脑功能特征相关的新遗传区域（P< 2.8×10^-11），包括与精神病理学三重网络模型中涉及的中央执行、默认模式和显著网络的关联。许多与大脑活动相关的基因座与脑部疾病共定位（例如，与阿尔茨海默病有关的APOE ε4基因座）。脑功能的变化与脑部疾病（例如重度抑郁症和精神分裂症）具有遗传相关性。总之，他们的研究在理解大脑功能网络的遗传结构及其与大脑相关的复杂特征和疾病的遗传联系方面迈出了一步。

据介绍，人类的大脑形成了相关活动的功能网络，这些活动与认知和临床结果都有联系。然而，影响大脑功能的遗传变异在很大程度上是未知的。

附：英文原文

Title: Common variants contribute to intrinsic human brain functional networks

Author: Zhao, Bingxin, Li, Tengfei, Smith, Stephen M., Xiong, Di, Wang, Xifeng, Yang, Yue, Luo, Tianyou, Zhu, Ziliang, Shan, Yue, Matoba, Nana, Sun, Quan, Yang, Yuchen, Hauberg, Mads E., Bendl, Jaroslav, Fullard, John F., Roussos, Panagiotis, Lin, Weili, Li, Yun, Stein, Jason L., Zhu, Hongtu

Issue&Volume: 2022-04-07

Abstract: The human brain forms functional networks of correlated activity, which have been linked with both cognitive and clinical outcomes. However, the genetic variants affecting brain function are largely unknown. Here, we used resting-state functional magnetic resonance images from 47,276 individuals to discover and validate common genetic variants influencing intrinsic brain activity. We identified 45 new genetic regions associated with brain functional signatures (P<2.8×1011), including associations to the central executive, default mode, and salience networks involved in the triple-network model of psychopathology. A number of brain activity-associated loci colocalized with brain disorders (e.g., the APOE ε4 locus with Alzheimer’s disease). Variation in brain function was genetically correlated with brain disorders, such as major depressive disorder and schizophrenia. Together, our study provides a step forward in understanding the genetic architecture of brain functional networks and their genetic links to brain-related complex traits and disorders.

DOI: 10.1038/s41588-022-01039-6

Source: https://www.nature.com/articles/s41588-022-01039-6