摘要
目的采用RNA测序技术对眼睑基底细胞癌差异基因进行筛选和分析。方法选取2021年7月至11月因眼睑基底细胞癌就诊于河北省眼科医院并行扩大切除及一期眼睑重建的患者6例,分别取切除的部分癌组织及修复缺损时修剪的癌旁正常组织各一块进行研究。通过RNA测序技术进行建库测序。使用DESeq2软件设定P<0.05及|log 2(foldchange)|>1为显著差异表达的阈值。鉴定出差异表达的基因。采用clusterProfiler软件对差异基因集进行GO功能富集分析和KEGG通路富集分析,进一步分析这些特异性基因的生物学意义。结果使用DESeq2软件进行癌组织和癌旁组织之间的差异表达分析,共筛选出1317个差异基因,其中在6例癌组织中表达上调的基因有906个,表达下调的基因有411个。GO富集分析结果中上调最显著的前30个差异基因主要富集于体液免疫反应、免疫球蛋白复合物、B细胞受体信号通路、细胞外基质、抗原结合、受体调节剂活性等方面。下调基因前10位在生物过程、细胞组成、分子功能层面主要与表皮发展相关。KEGG通路富集主要集中在黑色素生成通路及WNT信号通路、免疫相关信号通路等,相关基因通路有8个。根据基因上调的显著性由大到小,最终确定核心基因包括FZD2、PTCH1、WNT7B、TCF3、MMP-9、TEAD2。结论基底细胞癌的发生与各种通路相互影响和共同作用密切相关,各种高表达基因中,FZD2、PTCH1、WNT7B、TCF3、MMP-9、TEAD2在眼睑基底细胞癌患者组织中表达升高最显著,与眼睑基底细胞癌的发生和发展有密切关系。
Objective To screen and analyze the differentially expressed genes(DEGs)in basal cell carcinoma(BCC)of the eyelid using RNA sequencing technology.Methods Six patients who underwent extended resection and primary eyelid reconstruction for BCC of the eyelid in Hebei Eye Hospital from July to November 2021 were selected.Part of the excised cancer tissues and the adjacent normal tissues trimmed during the repair of the defect were sampled for the study.The library construction for sequencing was performed using RNA sequencing technology.The threshold for DEGs was set using the DESeq2 software:P<0.05 and|log 2(foldchange)|>1,to identify DEGs.Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analyses were performed using the clusterProfiler software,and the biological significance of these DEGs was further analyzed.Results DESeq2 software was used to analyze the differential expression between cancer tissues and adjacent tissues,and 1317 DEGs were screened out.In the cancer tissues of the 6 patients,906 DEGs were up-regulated,and 411 DEGs were down-regulated.GO enrichment analysis showed that the top 30 up-regulated DEGs were mainly concentrated in humoral immune response,immunoglobulin complex,B cell receptor signaling pathway,extracellular matrix,antigen binding,and receptor modulator activity,and the top 10 down-regulated genes were mainly related to epidermal development in biological process,cell composition,and molecular function.KEGG pathway analysis revealed that DEGs were mainly enriched in the melanogenesis signaling pathway,WNT signaling pathway,and immune-related signaling pathway,and there were 8 related gene pathways.According to the significance of gene up-regulation,the core genes identified finally were FZD2,PTCH1,WNT7B,TCF3,MMP-9,and TEAD2.Conclusion The occurrence of BCC is closely related to the interaction and synergy of various pathways.Among the highly expressed genes,the up-regulation of FZD2,PTCH1,WNT7B,TCF3,MMP-9,and TEAD2 expression in the tissues of patients with BCC of the eyelid is the most significant,which is closely related to the occurrence and development of BCC of the eyelid.
作者
杨俭伟
宋丽华
王娟
张璐璐
肖丽
张宏彬
刘立民
刘延东
YANG Jianwei;SONG Lihua;WANG Juan;ZHANG Lulu;XIAO Li;ZHANG Hongbin;LIU Limin;LIU Yandong(Department of Ophthalmology of Hebei Eye Hospital,Hebei Key Laboratory of Ophthalmology,Hebei Clinical Medical Research Center of Eye Diseases,Xingtai 054001,Hebei Province,China)
出处
《眼科新进展》
CAS
北大核心
2024年第6期454-457,共4页
Recent Advances in Ophthalmology
基金
河北省社会发展领域专项基金(编号:2022ZC236)。
关键词
基底细胞癌
差异基因
信号通路
富集分析
生物信息学
basal cell carcinoma
differentially expressed genes
signaling pathway
enrichment analysis
bioinformatics
