Weng Xiulan, Ye Jingxuan, Lin Wenyu, Wang Dingjie, Yi Jinsong, Wang Zhenhong, Sun Pengming
College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, Fujian, China.
Fujian Key Laboratory of Women and Childrens Critical Diseases Research, Fujian Maternity and Child Health Hospital (Fujian Women and Childrens Hospital), Fuzhou, 350001, Fujian, China.
Sci Rep. 2025 Sep 29;15(1):33609. doi: 10.1038/s41598-025-19007-5.
Endometriosis (EMs) is a chronic disease affecting millions of women worldwide, yet its pathogenesis remains unclear, and current diagnostic methods are limited. This study based on the EMs dataset from Gene Expression Omnibus (GEO), key genes related to cell apoptosis in EMs were identified through methods such as differential expression analysis and machine learning. Furthermore, analyses including nomogram construction, immune infiltration analysis, and drug prediction were performed based on these key genes. Three apoptosis-related genes-FAS, PRKAR2B and CSF2RB were identified as key genes. The nomogram constructed based on these key genes has good predictive performance. Immune infiltration analysis revealed associations between CSF2RB and activated B cells and immature dendritic cells, while FAS correlated with myeloid-derived suppressor cells (MDSCs). Additionally, potential therapeutic agents targeting these genes were identified. Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) analysis revealed that FAS and CSF2RB expression levels were significantly downregulated in the EMs group compared to controls (P < 0.05). In conclusion, FAS, PRKAR2B and CSF2RB are promising diagnostic biomarkers for EMs and are associated with specific immune cell populations, offering potential targets for future therapeutic interventions.
子宫内膜异位症（EMs）是一种影响全球数百万女性的慢性疾病，但其发病机制仍不清楚，且目前的诊断方法有限。本研究基于来自基因表达综合数据库（GEO）的EMs数据集，通过差异表达分析和机器学习等方法鉴定了与EMs细胞凋亡相关的关键基因。此外，基于这些关键基因进行了包括列线图构建、免疫浸润分析和药物预测等分析。确定了三个与凋亡相关的基因——FAS、PRKAR2B和CSF2RB为关键基因。基于这些关键基因构建的列线图具有良好的预测性能。免疫浸润分析揭示了CSF2RB与活化B细胞和未成熟树突状细胞之间的关联，而FAS与髓系来源抑制细胞（MDSC）相关。此外，还确定了靶向这些基因的潜在治疗药物。逆转录定量聚合酶链反应（RT-qPCR）分析显示，与对照组相比，EMs组中FAS和CSF2RB的表达水平显著下调（P < 0.05）。总之，FAS、PRKAR2B和CSF2RB是有前景的EMs诊断生物标志物，且与特定免疫细胞群体相关，为未来的治疗干预提供了潜在靶点。
