为研究内皮细胞亚群在自闭症谱系障碍(Autism spectrum disorder, ASD)患者血脑屏障中发挥的作用,利用一系列数据挖掘方法对ASD患者前额叶皮质单细胞核转录组测序数据集进行分析。首先,使用图聚类方法将其内皮细胞分为4个亚群。然后,通过Wilcoxon秩和检验获取各亚群在ASD状态下的差异表达基因,并进行KEGG富集及GO分析,结果提示内皮细胞亚群1主要涉及ATP的合成与代谢、线粒体以及氧化还原酶等各种酶的活性改变。最后对内皮细胞亚群与脑组织其他细胞进行细胞间相互作用分析,结果显示,在ASD患者中内皮细胞接收小胶质细胞信号次数增加；内皮细胞亚群1与小胶质细胞间可能存在特异SPP1 - (ITGAV+ITGB1)和SPP1 - (ITGAV+ITGB5)配体受体对信号；同时,接收到星形胶质细胞信号次数及强度减少。

In order to study the role of endothelial cell subsets in the blood-brain barrier of patients with autism spectrum disorder (ASD), a series of data mining methods were used to analyze the data set of single nuclei RNA sequencing in prefrontal cortex of ASD patients. First of all, the endothelial cells were divided into 4 subsets using graph clustering method. Then, the differentially expressed genes of each subset in ASD state were obtained by Wilcoxon rank sum test, KEGG enrichment and GO analysis were carried out. The results indicated that endothelial cell subset 1 was mainly involved in the changes of ATP synthesis and metabolism, mitochondria and activity of various enzymes such as oxidoreductase. Finally, the cell crosstalk between endothelial cell subsets and other cell groups in brain tissue was analyzed. The results showed that the number of endothelial cells receiving microglial signals increased in ASD patients; There may be specific SPP1 - (ITGAV+ITGB1) and SPP1 - (ITGAV+ITGB5) ligand receptor pair signals between endothelial cell subset 1 and microglia; At the same time, the number and strength of astrocyte signals received decreased.

Q811.4；TP399

国家自然科学基金资助项目(61771081)；重庆市国家自然科学基金资助项目(No.cstc2021jcyj-msxmX0595)。