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Background <p>Autism spectrum disorder (ASD), a disorder with high heritability, is linked to abnormal cerebral blood flow (CBF) in patients. The present study focuses on exploring the genetic mechanisms behind CBF in ASD.</p> Methods <p>A total of 34 children with ASD and 31 typically developing (TD) children were examined to find the inter - group differences in CBF. In combination with the Allen Human Brain Atlas (AHBA), an analysis of transcriptome - neuroimaging spatial association was carried out. This was done to identify genes whose expression was related to CBF changes in ASD, and then gene function characteristics were analyzed.</p> Results <p>In comparison with TD children, children with ASD had elevated CBF values in the frontal pole, temporal pole, and thalamus, while having lower CBF values in the superior parietal and caudal middle frontal regions. There were 2,759 genes whose expression was spatially correlated with the CBF changes. Functions such as “Inorganic ion transmembrane transport”, “adrenergic signaling in cardiomyocytes”, and “neuronal system” were significantly enriched. Significantly down - weighted genes had significant correlations with gamma - aminobutyric acid in the AHBA - seq and DrONc - seq databases.</p> Conclusion <p>The transcription - neuroimaging associations arising from cerebral perfusion redistribution in ASD are supplemented in an additional way, which helps in enhancing the understanding of the ASD brain.</p>

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Cerebral blood flow changes and their genetic mechanisms in autism spectrum disorder: a combined neuroimaging and transcriptome study

  • 期刊论文

  • 发表日期：

    2025年8月26日

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  • Fang Ye,
  • Jixin Luan,
  • Pianpian Hu,
  • Aocai Yang,
  • Jing Liu,
  • Manxi Xu,
  • Kuan Lv,
  • Kundi Wang,
  • Yunfeng Wang,
  • Ni Shu,
  • Gaoxiang Ouyang,
  • Hongwei Yu,
  • Yuli Wang,
  • Zhen Yuan,
  • Shijun Li,
  • Pengfei Xu,
  • Qi Zhang,
  • Guolin Ma

摘要

Background

Autism spectrum disorder (ASD), a disorder with high heritability, is linked to abnormal cerebral blood flow (CBF) in patients. The present study focuses on exploring the genetic mechanisms behind CBF in ASD.

Methods

A total of 34 children with ASD and 31 typically developing (TD) children were examined to find the inter - group differences in CBF. In combination with the Allen Human Brain Atlas (AHBA), an analysis of transcriptome - neuroimaging spatial association was carried out. This was done to identify genes whose expression was related to CBF changes in ASD, and then gene function characteristics were analyzed.

Results

In comparison with TD children, children with ASD had elevated CBF values in the frontal pole, temporal pole, and thalamus, while having lower CBF values in the superior parietal and caudal middle frontal regions. There were 2,759 genes whose expression was spatially correlated with the CBF changes. Functions such as “Inorganic ion transmembrane transport”, “adrenergic signaling in cardiomyocytes”, and “neuronal system” were significantly enriched. Significantly down - weighted genes had significant correlations with gamma - aminobutyric acid in the AHBA - seq and DrONc - seq databases.

Conclusion

The transcription - neuroimaging associations arising from cerebral perfusion redistribution in ASD are supplemented in an additional way, which helps in enhancing the understanding of the ASD brain.