背景人葡萄膜黑色素瘤(UM)组织与正常组织中存在差异表达基因，但国外不同文献报道的结果不尽一致，而国内对人UM基因表达的改变及其相关的作用通路的研究较少。
目的应用基因芯片技术探讨人UM中差异表达的基因，分析差异基因参与的重要信号通路。
方法收集在北京同仁医院因原发性UM行眼球摘除并经组织病理学证实为梭形细胞型UM的组织标本4例，以正常供体葡萄膜组织作为对照组。利用Human Genome U133 Plus 2.0芯片技术筛查2种组织中基因表达的差异，并使用GOEAST富集分析软件对差异基因的重要生物学功能及参与的通路进行分析。
结果与正常的葡萄膜组织对比，人UM中有4 165个差异基因，占12.50%，其中包含1 236个上调基因和2 929个下调基因，分别占3.71%和8.79%。人UM组织中上调5倍或以上基因为113个，下调50%的基因为1 053个；上调10倍或以上的基因为21个，下调90%或以上的基因为422个；上调50倍或以上的基因为1个，下调98%或以上的基因为33个；上调100倍或以上的基因为1个，下调99%或以上的基因为5个。按功能学分类表明，差异表达基因中包括细胞分化与增生基因、发育相关基因、细胞黏附相关基因、免疫应答基因、调节转录基因、信号转导相关基因、凋亡以及抗凋亡相关基因等；差异表达基因参与的代谢通路涉及血管形成过程的代谢通路、细胞周期相关的蛋白激酶通路以及B淋巴细胞或T淋巴细胞的代谢通路等。
结论人UM组织与正常人葡萄膜组织中基因表达谱明显不同，这些差异表达的基因除参与血管生成、激酶通路等已知的UM发育有关的代谢通路外，还涉及免疫系统的变化。人UM的发生和进展是多种基因、多种通路共同作用的结果。
BackgroundStudies showed that there exsits differential gene expression in human uveal melanoma (UM). However, the researching results are somewhat inconsistently abroad, while relevant literature is still less in China.Few domestic researches have reported the abnormalities of gene transcription level or the pathways of these genes.
ObjectiveThis study was to compare the gene expression profiles between human UM and normal uvea tissues and analyze the metabolic pathways involved in these differentially expressed genes.
MethodsFour human UM samples were collected in Beijing Tongren Eye Center, and 4 pieces of normal uveal tissues from 4 donors served as controls.The expression of genes was detected with Human Genome U133 Plus 2.0 chip, and the expression profiles were compared between two groups.The biological functions and active pathways of the genes were analyzed by Gene Ontology Enrichment Analysis Software Toolkit (GOEAST).
ResultsCompared with the normal controls, 4 165 differential genes were screened in human UM (12.50%), including 1 236 up-regulated genes (3.71%) and 2 929 down-regulated genes (8.79%), in which the genes of raised more than 5-, 10-, 50- and 100-fold were 113, 21, 1 and 1, respectively, and the genes of reduced by 50%, 90%, 98% and 99% were 1 053, 422, 33 and 5, respectively.The functions of these differentially expressed genes were associated with cellular differentiation and growth, development, cell adhension, immun response, transcriptional contol, signal transduction and anti-apoptosis.The metabolic pathways of differentially expressed genes included angiogenesis pathway, cell-cycle related protein kinase pathway and immune regulatory pathway (involving B lymphocytes and T lymphocytes).
ConclusionsGene expression profiles are evidently different between human UM and normal uveal tissue.The variation of the gene profiles in human UM leads to the changes of multiple biological functions including angiogenesis and kinase pathway even immun system.It is implied that the pathogenesis of human UM is a comprehensive effect of multiple genes and biological pathways.
杜葵芳,顼晓琳,李洋,等. 人葡萄膜黑色素瘤组织中差异表达基因及相关代谢通路的分析[J]. 中华实验眼科杂志,2015,33(11)：996-1003.
DOI:10.3760/cma.j.issn.2095-0160.2015.11.008版权归中华医学会所有。
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