Bioinformatic identification of important roles of COL1A1 and TNFRSF12A in cartilage injury and osteoporosis

Objective The aim of this study was to identify the key regulatory mechanisms of cartilage injury and osteoporosis through bioinformatics methods, and to provide a new theoretical basis and molecular targets for the diagnosis and treatment of the disease.Methods Microarray data for cartilage injury...

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Main Authors: Muzi Liu, Shiguo Gong, Xin Sheng, Zihong Zhang, Xichun Wang
Format: Article
Language:English
Published: Taylor & Francis Group 2025-12-01
Series:Journal of the International Society of Sports Nutrition
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Online Access:https://www.tandfonline.com/doi/10.1080/15502783.2025.2454641
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author Muzi Liu
Shiguo Gong
Xin Sheng
Zihong Zhang
Xichun Wang
author_facet Muzi Liu
Shiguo Gong
Xin Sheng
Zihong Zhang
Xichun Wang
author_sort Muzi Liu
collection DOAJ
description Objective The aim of this study was to identify the key regulatory mechanisms of cartilage injury and osteoporosis through bioinformatics methods, and to provide a new theoretical basis and molecular targets for the diagnosis and treatment of the disease.Methods Microarray data for cartilage injury (GSE129147) and osteoporosis (GSE230665) were first downloaded from the GEO database. Differential expression analysis was applied to identify genes that were significantly up-or down-regulated in the cartilage injury and osteoporosis samples. These genes were subjected to GO enrichment analysis and KEGG pathway analysis. In addition, we employed SVA and RRA methods to merge the two sets of data, eliminating batch effects and enhancing the statistical power of the analysis. Through WGCNA, we identified gene modules that were closely associated with disease phenotypes and then screened for key genes that intersected with differentially expressed genes. The diagnostic value of these genes as potential biomarkers was evaluated by ROC analysis. Moreover, we performed an immune infiltration analysis to explore the correlation between these core genes and immune cell infiltration.Results We performed GO enrichment analysis and KEGG pathway analysis of genes significantly up-or down-regulated in cartilage injury and osteoporosis samples. Important biological processes, cellular components and molecular functions, and key metabolic or signaling pathways associated with osteoporosis and cartilage injury were identified. Through WGCNA, we identified gene modules that were closely associated with the disease phenotype, from which we then screened for key genes that intersected with differentially expressed genes. Ultimately, we focused on two identified core genes, COL1A1 and TNFRSF12A, and assessed the diagnostic value of these genes as potential biomarkers by ROC analysis. Meanwhile, GSVA provided an in-depth view of the role of these genes in disease-specific biological pathways. Immune infiltration analysis further revealed the possible key role of COL1A1 and TNFRSF12A in regulating immune cell infiltration in osteoporosis and cartilage injury.Conclusion COL1A1 and TNFRSF12A as key regulatory molecules in osteoporosis and cartilage injury.
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spelling doaj-art-ddbf148fe4314671847fc9153fc9e3bb2025-01-23T17:18:14ZengTaylor & Francis GroupJournal of the International Society of Sports Nutrition1550-27832025-12-0122110.1080/15502783.2025.2454641Bioinformatic identification of important roles of COL1A1 and TNFRSF12A in cartilage injury and osteoporosisMuzi Liu0Shiguo Gong1Xin Sheng2Zihong Zhang3Xichun Wang4Jiujiang No.1 People’s Hospital, Department of Orthopedics, Jiujiang City Key Laboratory of Cell Therapy, Jiujiang, ChinaJiujiang No.1 People’s Hospital, Department of Orthopedics, Jiujiang City Key Laboratory of Cell Therapy, Jiujiang, ChinaJiujiang No.1 People’s Hospital, Department of Orthopedics, Jiujiang City Key Laboratory of Cell Therapy, Jiujiang, ChinaJiujiang No.1 People’s Hospital, Department of Orthopedics, Jiujiang City Key Laboratory of Cell Therapy, Jiujiang, ChinaJiujiang No.1 People’s Hospital, Department of Orthopedics, Jiujiang City Key Laboratory of Cell Therapy, Jiujiang, ChinaObjective The aim of this study was to identify the key regulatory mechanisms of cartilage injury and osteoporosis through bioinformatics methods, and to provide a new theoretical basis and molecular targets for the diagnosis and treatment of the disease.Methods Microarray data for cartilage injury (GSE129147) and osteoporosis (GSE230665) were first downloaded from the GEO database. Differential expression analysis was applied to identify genes that were significantly up-or down-regulated in the cartilage injury and osteoporosis samples. These genes were subjected to GO enrichment analysis and KEGG pathway analysis. In addition, we employed SVA and RRA methods to merge the two sets of data, eliminating batch effects and enhancing the statistical power of the analysis. Through WGCNA, we identified gene modules that were closely associated with disease phenotypes and then screened for key genes that intersected with differentially expressed genes. The diagnostic value of these genes as potential biomarkers was evaluated by ROC analysis. Moreover, we performed an immune infiltration analysis to explore the correlation between these core genes and immune cell infiltration.Results We performed GO enrichment analysis and KEGG pathway analysis of genes significantly up-or down-regulated in cartilage injury and osteoporosis samples. Important biological processes, cellular components and molecular functions, and key metabolic or signaling pathways associated with osteoporosis and cartilage injury were identified. Through WGCNA, we identified gene modules that were closely associated with the disease phenotype, from which we then screened for key genes that intersected with differentially expressed genes. Ultimately, we focused on two identified core genes, COL1A1 and TNFRSF12A, and assessed the diagnostic value of these genes as potential biomarkers by ROC analysis. Meanwhile, GSVA provided an in-depth view of the role of these genes in disease-specific biological pathways. Immune infiltration analysis further revealed the possible key role of COL1A1 and TNFRSF12A in regulating immune cell infiltration in osteoporosis and cartilage injury.Conclusion COL1A1 and TNFRSF12A as key regulatory molecules in osteoporosis and cartilage injury.https://www.tandfonline.com/doi/10.1080/15502783.2025.2454641Osteoporosiscartilage injurybioinformaticsWGCNAGO enrichment analysisKEGG pathway analysis
spellingShingle Muzi Liu
Shiguo Gong
Xin Sheng
Zihong Zhang
Xichun Wang
Bioinformatic identification of important roles of COL1A1 and TNFRSF12A in cartilage injury and osteoporosis
Journal of the International Society of Sports Nutrition
Osteoporosis
cartilage injury
bioinformatics
WGCNA
GO enrichment analysis
KEGG pathway analysis
title Bioinformatic identification of important roles of COL1A1 and TNFRSF12A in cartilage injury and osteoporosis
title_full Bioinformatic identification of important roles of COL1A1 and TNFRSF12A in cartilage injury and osteoporosis
title_fullStr Bioinformatic identification of important roles of COL1A1 and TNFRSF12A in cartilage injury and osteoporosis
title_full_unstemmed Bioinformatic identification of important roles of COL1A1 and TNFRSF12A in cartilage injury and osteoporosis
title_short Bioinformatic identification of important roles of COL1A1 and TNFRSF12A in cartilage injury and osteoporosis
title_sort bioinformatic identification of important roles of col1a1 and tnfrsf12a in cartilage injury and osteoporosis
topic Osteoporosis
cartilage injury
bioinformatics
WGCNA
GO enrichment analysis
KEGG pathway analysis
url https://www.tandfonline.com/doi/10.1080/15502783.2025.2454641
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AT xinsheng bioinformaticidentificationofimportantrolesofcol1a1andtnfrsf12aincartilageinjuryandosteoporosis
AT zihongzhang bioinformaticidentificationofimportantrolesofcol1a1andtnfrsf12aincartilageinjuryandosteoporosis
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