现代妇产科进展2026，Vol.35Issue(5)：321-331,11.DOI:10.13283/j.cnki.xdfckjz.2026.05.031
复发性流产滋养细胞的单细胞转录组图谱:亚型与功能失调研究
Single-cell transcriptomic profiling of trophoblasts in recurrent spontaneous abortion:in-sights into subtypes and functional dysregulation
摘要
Abstract
Objective:To investigate the aberrant states of trophoblast subpopulations in patients with recurrent spontaneous abortion(RSA)through analysis of single-cell transcrip-tomic data and to identify key genes,thereby providing a theoretical foundation for understand-ing the pathogenesis and progression of RSA.Methods:Single-cell RNA sequencing data(GSE214)meeting the criteria were downloaded from the Gene Expression Omnibus(GEO)database.Quality control and standardized analysis were performed using the Seurat pipeline,followed by manual annotation of cell types.Trophoblasts were extracted for trajectory inference,cell-cell communication analysis,and differential gene expression analysis.Transcription factor(TF)analysis was conducted to identify key regulators in RSA.Functional validation of the i-dentified TF was performed through cellular experiments to assess its impact on trophoblast be-havior.Results:Trophoblast subpopulations in RSA exhibit a distinct disproportion,show differ-entiation arrest,and demonstrate functional dysregulation.The mTORC1 signaling pathway is significantly downregulated in RSA trophoblasts.Adaptation to physiological hypoxia is im-paired.Transcription factor analysis identified interleukin enhancer binding factor 2(ILF2)as a key regulator of trophoblast function.Knockdown of ILF2 significantly inhibited trophoblast proliferation,invasion,and migration.Conclusion:The downregulation of the mTORC1 signaling pathway mediates impaired adaptation to physiological hypoxia.This impairment serves as the core mechanism for trophoblast dysfunction in RSA.Trophoblast function is likely regulated by ILF2 through the mTORC1 signaling axis.A theoretical foundation for the development of diag-nostic and therapeutic targets for RSA is established by these findings.关键词
单细胞转录组/复发性流产/滋养细胞/细胞功能/ILF2Key words
scRNA-seq/RSA/Trophoblast/Cellular functions/ILF2分类
医药卫生引用本文复制引用
刘彦伶,李梓汇,张欣雨,刘婕,孔维娅,赵玉莹,朱斌,毛海婷..复发性流产滋养细胞的单细胞转录组图谱:亚型与功能失调研究[J].现代妇产科进展,2026,35(5):321-331,11.基金项目
国家自然科学基金面上项目(No:82172342 （）
No:82472345) （）
山东省面上项目(No:ZR2025MS1228) （No:ZR2025MS1228）
济南市科技计划项目(No:202328046) （No:202328046）
