Ye Fang, Luan Jixin, Hu Pianpian, Yang Aocai, Liu Jing, Xu Manxi, Lv Kuan, Wang Kundi, Wang Yunfeng, Shu Ni, Ouyang Gaoxiang, Yu Hongwei, Wang Yuli, Yuan Zhen, Li Shijun, Xu Pengfei, Zhang Qi, Ma Guolin
Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China.
Department of Radiology, China-Japan Friendship Hospital, Beijing, China.
Eur Arch Psychiatry Clin Neurosci. 2025 Aug 26. doi: 10.1007/s00406-025-02077-x.
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.
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.
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.
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.
自闭症谱系障碍（ASD）是一种遗传性很高的疾病，与患者大脑血流量（CBF）异常有关。本研究着重探讨ASD中CBF背后的遗传机制。
共检查了34名ASD儿童和31名发育正常（TD）的儿童，以发现两组之间CBF的差异。结合艾伦人类脑图谱（AHBA），进行了转录组-神经影像空间关联分析。这样做是为了识别那些表达与ASD中CBF变化相关的基因，然后分析基因功能特征。
与TD儿童相比，ASD儿童在额极、颞极和丘脑的CBF值升高，而在顶上叶和额中回后部区域的CBF值较低。有2759个基因的表达与CBF变化在空间上相关。“无机离子跨膜转运”、“心肌细胞中的肾上腺素能信号传导”和“神经系统”等功能显著富集。在AHBA-seq和DrONc-seq数据库中，显著下调的基因与γ-氨基丁酸有显著相关性。
以另一种方式补充了ASD中脑灌注重新分布产生的转录-神经影像关联，这有助于增强对ASD大脑的理解。
