Single-cell transcriptome analysis profiles cellular and molecular alterations in aortic tissue from patients with Behçet’s syndrome

Abstract Objectives This study aims to analyse the expression profiles, phenotypes, functions and cell–cell communication of various cell subpopulations in the affected aortic tissues of patients with Behçet’s syndrome (BS) at the transcriptomic level. Methods This study recruited six participants (three with BS and three with atherosclerosis) from Beijing Anzhen Hospital between January 2023 and June 2024, collected their clinical information, and performed single-cell RNA sequencing on aortic tissue specimens using the SeekOne® MM High Flux Single Cell Transcriptome Kit V4.1. The data were analysed with Seurat and Harmony in R, including quality control, cell clustering, differential gene expression analysis, GO and KEGG enrichment analyses, subgroup analyses focusing on specific cell types, and intercellular communication analysis using CellChat v1.6.1. Results The study identified eight major cell types in aortic tissues, with significant differences in cell proportions between BS patients and controls. Compared with controls, BS patients had increased endothelial cells, fibroblasts and mesenchymal stem cells, while smooth muscle cells decreased. Subgroup analysis revealed significant differences between the BS and control groups in cell subpopulation distribution, enriched pathways and cell interactions. Conclusion Our study revealed cellular and molecular changes in the aortic tissues of patients with BS, laying the foundation for elucidating the pathogenesis of BS and identifying potential therapeutic targets.