揭示皮肤黑色素瘤和葡萄膜黑色素瘤共同基因和分子通路的生物信息学方法

IF 1.2 Q4 GENETICS & HEREDITY Egyptian Journal of Medical Human Genetics Pub Date : 2024-05-09 DOI:10.1186/s43042-024-00526-1
Perumal Jayaraj, Tanisha Bhimwal, Khushneet Kaur, Kritika Gupta, Shreya Taluja, Anjali Priyadarshani
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引用次数: 0

摘要

黑色素瘤具有高度侵袭性,以转移和死亡著称。产生黑色素瘤的黑色素细胞是神经嵴祖细胞。我们的研究主要涉及葡萄膜黑色素瘤(UM)和皮肤黑色素瘤(CM)。虽然它们都具有相同的黑色素细胞起源,但各自的生物学特性却不同。我们的研究旨在识别UM和CM之间共同的差异表达基因(DEGs)。我们从 GEO 下载了基因表达谱,并用 GEO2R 进行了分析,以识别 DEGs。通过应用 DAVID、GO 和 KEGG,进行了通路富集分析。利用 STRING 分析了这些 DEGs 的 PPI,并通过 Cytoscape 和 MCODE 进行了可视化。此外,我们还利用 HPA 和 GEPIA 获得了 Kaplan-Meier 生存分析图,以评估枢纽基因的预后价值。我们研究了 UM 和 CM 数据集,并根据计算分析发现了三个常见的上调 DEGs 和八个下调 DEGs。结果表明,HMGCS1 和 ELOVL5 在多种改变的分子通路和癌症通路中富集。HMGCS1和ELOVL5的过表达与CM的不良预后有关。计算评估发现,HMGCS1和ELOVL5在两种黑色素瘤中均上调。富集分析表明,这些基因参与了癌症代谢途径,并与CM的不良预后有关。然而,这些基因在 UM 中的分子研究还很有限。因此,应更好地了解癌症代谢途径,为临床治疗铺平道路。
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A bioinformatics approach to reveal common genes and molecular pathways shared by cutaneous melanoma and uveal melanoma
Melanomas are highly aggressive in nature known for metastasis and death. Melanocytes that gave rise to melanomas are neural crest progenitor cells. Our research was primarily concerned with uveal melanoma (UM) and cutaneous melanoma (CM), respectively. Although they both have the same melanocytic origin, the biology of their respective is different. The aim of our study was to recognize the common differentially expressed genes (DEGs) between UM and CM. The gene expression profile was downloaded from the GEO and analyzed by GEO2R to recognize DEGs. By applying DAVID, GO, and KEGG, pathway enrichment analysis was performed. PPI of these DEGs was analyzed using STRING and visualized by Cytoscape and MCODE. Further, we utilized HPA and GEPIA to obtain Kaplan–Meier graph for survival analysis in order to assess the prognostic value of hub genes. We examined the UM and CM datasets and discovered three common upregulated and eight downregulated DEGs based on computational analysis. HMGCS1 and ELOVL5 were shown to be enriched in a variety of altered molecular pathways and pathways in cancer. Overexpression of HMGCS1 and ELOVL5 was linked to a poor prognosis in CM. Computational evaluation found that HMGCS1 and ELOVL5 were upregulated in both melanomas. Enrichment analysis showed that these genes are involved in cancer metabolism pathway and associated with poor prognosis in CM. However, the molecular study of these genes in UM is limited. Therefore, a better understanding of the cancer metabolism pathways should be carried to pave the way for clinical benefits.
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来源期刊
Egyptian Journal of Medical Human Genetics
Egyptian Journal of Medical Human Genetics Medicine-Genetics (clinical)
CiteScore
2.20
自引率
7.70%
发文量
150
审稿时长
18 weeks
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