子宫内膜异位症是一种常见的妇科疾病，与慢性盆腔疼痛、不孕不育和癌症有关。然而，其分子病理机制仍不清楚。本研究旨在鉴定参与子宫内膜异位症发病的关键基因。我们进行了生物信息学分析，以鉴定关键的差异表达基因(DEGs)、转录因子(TFs)和功能富集通路。我们分析了SPI1对人类子宫内膜异位细胞迁移、侵袭、ADH1B、MYH11和PLN表达的影响。通过筛选GEO中针对子宫内膜异位症患者子宫内膜和异位内膜间重叠DEGs的三个转录组数据集，我们发现ADH1B、MYH11和PLN的表达在异位内膜中明显上调。ADH1B、MYH11和PLN的沉默明显抑制了人类子宫内膜异位12Z细胞的迁移和侵袭。此外，基因集富集分析揭示上皮-间充质转化基因表达与ADH1B、MYH11和PLN表达呈正相关。值得注意的是，我们发现TF SPI1调节子宫内膜异位组织和12TZ细胞中这三个基因的表达。此外，SPI1表达与子宫内膜异位细胞的侵袭有关，并且在子宫内膜异位症患者的异位内膜中增加了表达。这些数据表明，SPI1通过调节ADH1B、MYH11和PLN表达，在子宫内膜异位症的发展中发挥着关键作用，因此可能成为子宫内膜异位症的潜在预测和治疗因子。版权所有 © 2023 Elsevier Inc. 发表。

Endometriosis is one of the most common gynecological diseases associated with chronic pelvic pain, infertility, and cancer. However, its molecular pathogenesis remains unclear. This study aimed to identify key genes involved in the pathogenesis of endometriosis.Bioinformatic analyses were perfomed to identify key differentially expressed genes (DEGs), transcription factors (TFs), and functionally enriched pathways. Effect of SPI1 on migration, invasion, expression of ADH1B, MYH11, and PLN were analyzed in human endometriotic cells.By screening three transcriptome datasets from the GEO for overlapping DEGs between eutopic and ectopic endometria in patients with endometriosis, we found that the expression of ADH1B, MYH11, and PLN was markedly upregulated in the ectopic endometrium. Knockdown of ADH1B, MYH11, and PLN significantly inhibited the migration and invasion of human endometriotic 12Z cells. Additionally, gene set enrichment analysis revealed that epithelial-mesenchymal transition gene signature was positively correlated with ADH1B, MYH11, and PLN expression. Notably, the TF SPI1 was found to regulate the expression of these three genes in the endometriotic tissues and 12TZ cells. Moreover, SPI1 expression was associated with the invasion of endometriotic cells and was increased in the ectopic endometrium of patients with endometriosis.These data suggest that SPI1 plays a key role in the progression of endometriosis by regulating ADH1B, MYH11, and PLN expression and may therefore serve as a potential prognostic and therapeutic factor for endometriosis.Copyright © 2023. Published by Elsevier Inc.