Gene expression covaries with brain activity as measured by resting state functional MRI. However, it is unclear how genomic differences driven by disease state can affect this relationship. Here, we integrate brain gene expression datasets of neurotypical controls and autistic (ASD) patients with regionally matched brain activity measurements from fMRI datasets. We identify genes linked with brain activity whose association is disrupted in ASD patients. We identified a subset of genes that showed a differential developmental trajectory in ASD patients compared with controls. These genes are enriched in voltage-gated ion channels and inhibitory neurons, pointing to excitation-inhibition imbalance in ASD. We further assessed differences at the regional level showing that the primary visual cortex is the most affected region in ASD patients. Our results link disrupted brain expression patterns of individuals with ASD to brain activity and show developmental, cell type, and regional enrichment of activity linked genes.

中文翻译：

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自闭症谱系障碍改变静止状态的功能性大脑连接性与基因表达之间的关联

如静息状态功能性MRI所测，基因表达与大脑活动相关。然而，尚不清楚由疾病状态驱动的基因组差异如何影响这种关系。在这里，我们将神经典型对照和自闭症（ASD）患者的脑基因表达数据集与来自fMRI数据集的区域匹配的脑活动测量进行整合。我们鉴定与脑活动有关的基因，这些基因在ASD患者中被破坏。我们鉴定了与对照组相比在ASD患者中显示出不同发育轨迹的基因子集。这些基因富含电压门控离子通道和抑制性神经元，表明ASD的兴奋性抑制失衡。我们进一步评估了区域水平的差异，显示出主要视觉皮层是ASD患者中受影响最大的区域。