摘要目的:探讨皮下脂肪和眶隔脂肪基因表达差异。方法:收集2022年5—6月重庆星荣整形外科医院腹部或大腿吸脂手术患者的皮下脂肪组织6份，行重睑或眼袋手术患者的眶隔脂肪6份。通过RNA测序比较皮下脂肪和眶隔脂肪的转录特征。通过生物信息学分析皮下脂肪和眶隔脂肪的基因表达差异。通过实时定量PCR验证上述基因表达差异。结果:主要成分分析(PCA)显示，皮下脂肪和眶隔脂肪的基因表达谱表现为两个独立的样本簇。火山图显示，与眶隔脂肪相比，皮下脂肪部分基因上调(如FOXL2和FOXL2NB)或下调(如DEFB132和HOXB3)。利用差异表达基因构建蛋白互作(PPI)网络显示，MYH7、TCAP和MYL2是皮下脂肪上调基因网络中排名前3位的基因，SOX9、WNT1和WNT2是眶隔脂肪上调基因网络中排名前3位的基因。基于上述PPI的热图分析显示，两组上调基因各自聚类，明显分离。信号通路分析显示，在皮下脂肪中，心肌病、肌肉收缩和AMPK通路显著富集；在眶隔脂肪中，Wnt信号通路和癌症相关通路显著富集。实时定量PCR(qRT-PCR)检测结果显示，与皮下脂肪相比，眶隔脂肪SOX9( P<0.001)和WNT2( P<0.001)基因表达上调，DEFB132( P<0.001)和HOXB3( P<0.01)基因表达下调。 结论:与皮下脂肪相比，眶隔脂肪SOX9和WNT2基因表达上调，DEFB132和HOXB3基因表达下调。眶隔脂肪中差异表达的基因可能是介导其独特组织生理学特征的关键因子。

abstractsObjective:To investigate the differential gene expression profiling between subcutaneous fat (SF) and orbital septum fat (OF).Methods:Six samples of SF tissue were collected from patients undergoing abdomen or thigh liposuction, and six samples of OF tissue were collected from patients undergoing double eyelid or pouch surgery in Chongqing Xing Rong Plastic Surgery Hospital from May 2022 to June 2022. Transcriptional characteristics of SF and OF were compared by RNA sequencing. The gene expression differences between SF and OF were analyzed by bioinformatics methods. The differences in gene expression were verified by real-time quantitative PCR (qRT-PCR).Results:Principal component analysis (PCA) showed the SF and OF groups were obviously separated as two independent gene clusters. The volcano plot analysis displayed the upregulated genes (such as FOXL2 and FOXL2NB), or the downregulated genes (such as DEFB132 and HOXB3) in SF group compared to those in OF group. Besides, the protein-protein interaction (PPI) network revealed the top 3 upregulated hub genes in SF group (MYH7, TCAP and MYL2) and in OF group (SOX9, WNT1 and WNT2). Heatmap analysis based on the above PPI showed that the two groups of upregulated genes were clustered and separated obviously. In addition, the signaling pathway analysis revealed that cardiomyopathy, muscle contraction and AMPK pathway were enriched in the SF group, while Wnt singling and cancer-related pathway were enriched in OF group. Finally, the qRT-PCR showed that SOX9 ( P<0.001) and WNT2 ( P<0.001) were upregulated, while DEFB132 ( P<0.001) and HOXB3 ( P<0.01) were downregulated in OF group compared to SF group, respectively. Conclusions:Compared to SF group, SOX9 and WNT2 are regulated, while DEFB132 and HOXB3 are downregulated in OF group. The differentially expressed genes in OF may be the key factors mediating its unique physiological features.