Identification of metabolism-related key genes as potential biomarkers for pathogenesis of immune thrombocytopenia
Abstract Immune thrombocytopenia (ITP), an acquired autoimmune disease, is characterized by immune-mediated platelet destruction. A biomarker is a biological entity that contributes to disease pathogenesis and reflects disease activity. Metabolic alterations are reported to be associated with the oc...
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Nature Portfolio
2024-04-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-024-59493-7 |
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| author | Xiangmei Xu Jiamin Zhang Hongyun Xing Liying Han Xiaoming Li Pengqiang Wu Jirui Tang Li Jing Jie Luo Jing Luo Lin Liu |
| author_facet | Xiangmei Xu Jiamin Zhang Hongyun Xing Liying Han Xiaoming Li Pengqiang Wu Jirui Tang Li Jing Jie Luo Jing Luo Lin Liu |
| author_sort | Xiangmei Xu |
| collection | DOAJ |
| description | Abstract Immune thrombocytopenia (ITP), an acquired autoimmune disease, is characterized by immune-mediated platelet destruction. A biomarker is a biological entity that contributes to disease pathogenesis and reflects disease activity. Metabolic alterations are reported to be associated with the occurrence of various diseases. As metabolic biomarkers for ITP have not been identified. This study aimed to identify metabolism-related differentially expressed genes as potential biomarkers for pathogenesis of ITP using bioinformatic analyses.The microarray expression data of the peripheral blood mononuclear cells were downloaded from the Gene Expression Omnibus database (GSE112278 download link: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE112278 ). Key module genes were intersected with metabolism-related genes to obtain the metabolism-related key candidate genes. The hub genes were screened based on the degree function in the coytoscape sofware. The key ITP-related genes were subjected to functional enrichment analysis. Immune infiltration analysis was performed using a single-sample gene set enrichment analysis algorithm to evaluate the differential infiltration levels of immune cell types between ITP patient and control. Molecular subtypes were identified based on the expression of hub genes. The expression of hub genes in the ITP patients was validated using quantitative real-time polymerase chain reaction analysis. This study identified five hub genes (ADH4, CYP7A1, CYP1A2, CYP8B1, and NR1H4), which were be associated with the pathogenesis of ITP, and two molecular subtypes of ITP. Among these hub genes, CYP7A1 and CYP8B1 involved in cholesterol metabolism,were further verified in clinical samples. |
| format | Article |
| id | doaj-art-413235a7ab6c417c97e200e35fa016aa |
| institution | Kabale University |
| issn | 2045-2322 |
| language | English |
| publishDate | 2024-04-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj-art-413235a7ab6c417c97e200e35fa016aa2025-08-20T03:43:02ZengNature PortfolioScientific Reports2045-23222024-04-0114111310.1038/s41598-024-59493-7Identification of metabolism-related key genes as potential biomarkers for pathogenesis of immune thrombocytopeniaXiangmei Xu0Jiamin Zhang1Hongyun Xing2Liying Han3Xiaoming Li4Pengqiang Wu5Jirui Tang6Li Jing7Jie Luo8Jing Luo9Lin Liu10Department of Hematology, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Hematology, The Affiliated Hospital, Southwest Medical UniversityDepartment of Hematology, The Affiliated Hospital, Southwest Medical UniversityDepartment of Hematology, The Affiliated Hospital, Southwest Medical UniversityDepartment of Hematology, The Affiliated Hospital, Southwest Medical UniversityDepartment of Hematology, The Affiliated Hospital, Southwest Medical UniversityDepartment of Hematology, The Affiliated Hospital, Southwest Medical UniversityDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Hematology, The First Affiliated Hospital of Chongqing Medical UniversityAbstract Immune thrombocytopenia (ITP), an acquired autoimmune disease, is characterized by immune-mediated platelet destruction. A biomarker is a biological entity that contributes to disease pathogenesis and reflects disease activity. Metabolic alterations are reported to be associated with the occurrence of various diseases. As metabolic biomarkers for ITP have not been identified. This study aimed to identify metabolism-related differentially expressed genes as potential biomarkers for pathogenesis of ITP using bioinformatic analyses.The microarray expression data of the peripheral blood mononuclear cells were downloaded from the Gene Expression Omnibus database (GSE112278 download link: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE112278 ). Key module genes were intersected with metabolism-related genes to obtain the metabolism-related key candidate genes. The hub genes were screened based on the degree function in the coytoscape sofware. The key ITP-related genes were subjected to functional enrichment analysis. Immune infiltration analysis was performed using a single-sample gene set enrichment analysis algorithm to evaluate the differential infiltration levels of immune cell types between ITP patient and control. Molecular subtypes were identified based on the expression of hub genes. The expression of hub genes in the ITP patients was validated using quantitative real-time polymerase chain reaction analysis. This study identified five hub genes (ADH4, CYP7A1, CYP1A2, CYP8B1, and NR1H4), which were be associated with the pathogenesis of ITP, and two molecular subtypes of ITP. Among these hub genes, CYP7A1 and CYP8B1 involved in cholesterol metabolism,were further verified in clinical samples.https://doi.org/10.1038/s41598-024-59493-7 |
| spellingShingle | Xiangmei Xu Jiamin Zhang Hongyun Xing Liying Han Xiaoming Li Pengqiang Wu Jirui Tang Li Jing Jie Luo Jing Luo Lin Liu Identification of metabolism-related key genes as potential biomarkers for pathogenesis of immune thrombocytopenia Scientific Reports |
| title | Identification of metabolism-related key genes as potential biomarkers for pathogenesis of immune thrombocytopenia |
| title_full | Identification of metabolism-related key genes as potential biomarkers for pathogenesis of immune thrombocytopenia |
| title_fullStr | Identification of metabolism-related key genes as potential biomarkers for pathogenesis of immune thrombocytopenia |
| title_full_unstemmed | Identification of metabolism-related key genes as potential biomarkers for pathogenesis of immune thrombocytopenia |
| title_short | Identification of metabolism-related key genes as potential biomarkers for pathogenesis of immune thrombocytopenia |
| title_sort | identification of metabolism related key genes as potential biomarkers for pathogenesis of immune thrombocytopenia |
| url | https://doi.org/10.1038/s41598-024-59493-7 |
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