Association between resting-state functional brain connectivity and gene expression is altered in autism spectrum disorder

Stefano Berto, Alex H. Treacher, Emre Caglayan, Danni Luo, Jillian R. Haney, Michael J. Gandal, Daniel H. Geschwind, Albert A. Montillo () and Genevieve Konopka ()
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Stefano Berto: UT Southwestern Medical Center
Alex H. Treacher: UT Southwestern Medical Center
Emre Caglayan: UT Southwestern Medical Center
Danni Luo: UT Southwestern Medical Center
Jillian R. Haney: University of California, Los Angeles
Michael J. Gandal: University of California, Los Angeles
Daniel H. Geschwind: University of California, Los Angeles
Albert A. Montillo: UT Southwestern Medical Center
Genevieve Konopka: UT Southwestern Medical Center

Nature Communications, 2022, vol. 13, issue 1, 1-11

Abstract: Abstract Gene expression covaries with brain activity as measured by resting state functional magnetic resonance imaging (MRI). However, it is unclear how genomic differences driven by disease state can affect this relationship. Here, we integrate from the ABIDE I and II imaging cohorts with datasets of gene expression in brains of neurotypical individuals and individuals with autism spectrum disorder (ASD) with regionally matched brain activity measurements from fMRI datasets. We identify genes linked with brain activity whose association is disrupted in ASD. We identified a subset of genes that showed a differential developmental trajectory in individuals with ASD 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. 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.

Date: 2022
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DOI: 10.1038/s41467-022-31053-5

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