• 中国科学论文统计源期刊
  • 中国科技核心期刊
  • 美国化学文摘(CA)来源期刊
  • 日本科学技术振兴机构数据库(JST)

JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE ›› 2023, Vol. 25 ›› Issue (1): 82-87.DOI: 10.3969/j.issn.1671-2587.2023.01.014

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Identification of Key Genes and Pathways Associated with DBA by Bioinformatics Analysis

XIA Yue-xin, LIU Zhi-yuan, SONG Wen-qian, et al   

  1. Dalian Blood Center, Dalian 116000
  • Received:2022-09-30 Published:2023-02-20

Abstract: Objective The current study aimed to identify critical genes and pathways in order to unravel the molecular mechanisms associated with Diamond-Blackfan Anemia (DBA). Method The gene expression profile dataset (GSE14335) was downloaded from Gene Expression Omnibus (GEO) database. The “limma” package in R software was utilized to identify the differentially expressed oxidative stress associated genes (DE-OSGs). “Cluster Profiler” package in R software was used for Gene ontology (GO) function analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis of DE-OSGs. Protein-protein interaction (PPI) network was constructed with STRING and hub genes were screened by Cytoscape. Result Totally 372 DEGs, including 40 DE-OSGs, were screened in this study. DE-OSGs were mainly enriched in TNF signaling pathway, AGE-RAGE signaling pathway in diabetic complications, IL-17 signaling pathway, NF-kappa B signaling pathway, and Toll-like receptor signaling pathway. The top 10 hub genes of PPI network were IL6, PPARG, CCL2, PTGS2, CXCL8, ICAM1, NFKBIA, EDN1, HMOX1 and CXCL1. Conclusion The present study identified the DE-OSGs and pathways in DBA by bioinformatics analysis, which may provide novel insights for unraveling pathogenesis of DBA. The hub genes might serve as biomarkers for diagnosis and treatment.

Key words: DBA, Bioinformatics analysis, Differentially expressed genes, Oxidative stress

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