Uncovering prognostic markers and therapeutic targets in acute myeloid leukemia: Insights from differential gene expression and Mendelian randomization analysis

The development and prognosis of acute myeloid leukemia (AML) are influenced by multiple factors. This study utilized bioinformatics analysis to explore differentially expressed genes (DEGs) in acute myeloid leukemia (AML) and non-tumor tissues, evaluating their prognostic significance. Target gene...

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Main Authors: Yaqi Huang, Xiao Zhu, Dongpei Li
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Medicine in Omics
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Online Access:http://www.sciencedirect.com/science/article/pii/S2590124925000021
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author Yaqi Huang
Xiao Zhu
Dongpei Li
author_facet Yaqi Huang
Xiao Zhu
Dongpei Li
author_sort Yaqi Huang
collection DOAJ
description The development and prognosis of acute myeloid leukemia (AML) are influenced by multiple factors. This study utilized bioinformatics analysis to explore differentially expressed genes (DEGs) in acute myeloid leukemia (AML) and non-tumor tissues, evaluating their prognostic significance. Target gene data from The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx) databases were extracted for analysis. Over 100 DEGs were identified, with MIR9-1 exhibiting downregulated expression in AML. Survival analysis revealed significant differences in overall survival rates between subgroups, with Cluster 2 showing better outcomes. Notable DEGs, including DEFA1B, FLT3LG, CUX1, and ZMYM2, were identified. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis highlighted relevant signaling pathways. Mendelian Randomization (MR) analysis unveiled a negative correlation between the “transcriptional misregulation in cancer pathway” and “hypermethylation of CpG island pathway” with AML. Sensitivity analysis demonstrated no heterogeneity or pleiotropy. Bayesian Weighted Mendelian Randomization (BWMR) validated MR results. Overall, this study identified potential therapeutic targets like FLT3LG, elucidated key genes for AML prognosis, and revealed protective roles of pathways through comprehensive bioinformatics analysis and Mendelian randomization.
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spelling doaj-art-ce8e8457c67f421cab15eaca314747c12025-08-20T02:05:11ZengElsevierMedicine in Omics2590-12492025-03-011310004210.1016/j.meomic.2025.100042Uncovering prognostic markers and therapeutic targets in acute myeloid leukemia: Insights from differential gene expression and Mendelian randomization analysisYaqi Huang0Xiao Zhu1Dongpei Li2The Second Affiliated Hospital, Guangdong Medical University, Zhanjiang, ChinaThe Second Affiliated Hospital, Guangdong Medical University, Zhanjiang, China; The Marine Biomedical Research Institute, School of Ocean and Tropical Medicine, Guangdong Medical University, Zhanjiang, ChinaThe Second Affiliated Hospital, Guangdong Medical University, Zhanjiang, China; Corresponding author.The development and prognosis of acute myeloid leukemia (AML) are influenced by multiple factors. This study utilized bioinformatics analysis to explore differentially expressed genes (DEGs) in acute myeloid leukemia (AML) and non-tumor tissues, evaluating their prognostic significance. Target gene data from The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx) databases were extracted for analysis. Over 100 DEGs were identified, with MIR9-1 exhibiting downregulated expression in AML. Survival analysis revealed significant differences in overall survival rates between subgroups, with Cluster 2 showing better outcomes. Notable DEGs, including DEFA1B, FLT3LG, CUX1, and ZMYM2, were identified. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis highlighted relevant signaling pathways. Mendelian Randomization (MR) analysis unveiled a negative correlation between the “transcriptional misregulation in cancer pathway” and “hypermethylation of CpG island pathway” with AML. Sensitivity analysis demonstrated no heterogeneity or pleiotropy. Bayesian Weighted Mendelian Randomization (BWMR) validated MR results. Overall, this study identified potential therapeutic targets like FLT3LG, elucidated key genes for AML prognosis, and revealed protective roles of pathways through comprehensive bioinformatics analysis and Mendelian randomization.http://www.sciencedirect.com/science/article/pii/S2590124925000021Mendelian RandomizationAcute myeloid leukemiaFLT3LGKEGG
spellingShingle Yaqi Huang
Xiao Zhu
Dongpei Li
Uncovering prognostic markers and therapeutic targets in acute myeloid leukemia: Insights from differential gene expression and Mendelian randomization analysis
Medicine in Omics
Mendelian Randomization
Acute myeloid leukemia
FLT3LG
KEGG
title Uncovering prognostic markers and therapeutic targets in acute myeloid leukemia: Insights from differential gene expression and Mendelian randomization analysis
title_full Uncovering prognostic markers and therapeutic targets in acute myeloid leukemia: Insights from differential gene expression and Mendelian randomization analysis
title_fullStr Uncovering prognostic markers and therapeutic targets in acute myeloid leukemia: Insights from differential gene expression and Mendelian randomization analysis
title_full_unstemmed Uncovering prognostic markers and therapeutic targets in acute myeloid leukemia: Insights from differential gene expression and Mendelian randomization analysis
title_short Uncovering prognostic markers and therapeutic targets in acute myeloid leukemia: Insights from differential gene expression and Mendelian randomization analysis
title_sort uncovering prognostic markers and therapeutic targets in acute myeloid leukemia insights from differential gene expression and mendelian randomization analysis
topic Mendelian Randomization
Acute myeloid leukemia
FLT3LG
KEGG
url http://www.sciencedirect.com/science/article/pii/S2590124925000021
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AT xiaozhu uncoveringprognosticmarkersandtherapeutictargetsinacutemyeloidleukemiainsightsfromdifferentialgeneexpressionandmendelianrandomizationanalysis
AT dongpeili uncoveringprognosticmarkersandtherapeutictargetsinacutemyeloidleukemiainsightsfromdifferentialgeneexpressionandmendelianrandomizationanalysis