{"title":"Graves病的枢纽基因和关键通路：生物信息学分析和验证。","authors":"Duan-Rong Zhuang, Xin Hu, Hui-Bin Huang","doi":"10.1007/s42000-025-00668-w","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>This study aims to identify hub genes associated with the onset and progression of Graves' disease (GD) with the goal of developing novel biomarkers to enhance diagnosis and improve patient outcomes.</p><p><strong>Methods: </strong>mRNA profiles from thyroid tissue samples (24 GD vs. 24 normal controls) were obtained from GEO (GSE9340), ArrayExpress (E-MEXP-2612), and GTEx (Thyroid dataset). After batch correction via SVA algorithm, 366 differentially expressed genes (DEGs) were identified using limma. Functional enrichment, protein-protein interaction networks, and immune microenvironment analysis were performed. Hub genes were validated in clinical thyroid specimens (3 GD vs. 3 controls) using RT-qPCR.</p><p><strong>Results: </strong>A total of 366 DEGs were identified in the diseased and normal groups. Among these, eight hub genes (TYROBP, CSF1R, CD163, ITGAM, CD86, FCGR3B, ITGB2, and IL10RA) showed strong correlations with immune cell content. These genes were predominantly enriched in pathways related to amino acid metabolism, viral protein interactions with cytokines and cytokine receptors, phagosome, chemokine signaling, programmed cell death, NF-κB, and other pathways. Additionally, these hub genes were linked to 39 regulatory factors. mRNA levels of these hub genes were validated in clinical samples through RT-qPCR. It is noteworthy that eight genes were found to be upregulated in GD samples.</p><p><strong>Conclusion: </strong>The study highlights the potential impact of ITGB 2, TYROBP, CSF1R, CD163, ITGAM, CD86, FCGR3B, and IL10RA on the development and progression of GD, supporting their role as potential biomarkers.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4000,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hub genes and key pathways of Graves' disease: bioinformatics analysis and validation.\",\"authors\":\"Duan-Rong Zhuang, Xin Hu, Hui-Bin Huang\",\"doi\":\"10.1007/s42000-025-00668-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>This study aims to identify hub genes associated with the onset and progression of Graves' disease (GD) with the goal of developing novel biomarkers to enhance diagnosis and improve patient outcomes.</p><p><strong>Methods: </strong>mRNA profiles from thyroid tissue samples (24 GD vs. 24 normal controls) were obtained from GEO (GSE9340), ArrayExpress (E-MEXP-2612), and GTEx (Thyroid dataset). After batch correction via SVA algorithm, 366 differentially expressed genes (DEGs) were identified using limma. Functional enrichment, protein-protein interaction networks, and immune microenvironment analysis were performed. Hub genes were validated in clinical thyroid specimens (3 GD vs. 3 controls) using RT-qPCR.</p><p><strong>Results: </strong>A total of 366 DEGs were identified in the diseased and normal groups. Among these, eight hub genes (TYROBP, CSF1R, CD163, ITGAM, CD86, FCGR3B, ITGB2, and IL10RA) showed strong correlations with immune cell content. These genes were predominantly enriched in pathways related to amino acid metabolism, viral protein interactions with cytokines and cytokine receptors, phagosome, chemokine signaling, programmed cell death, NF-κB, and other pathways. Additionally, these hub genes were linked to 39 regulatory factors. mRNA levels of these hub genes were validated in clinical samples through RT-qPCR. It is noteworthy that eight genes were found to be upregulated in GD samples.</p><p><strong>Conclusion: </strong>The study highlights the potential impact of ITGB 2, TYROBP, CSF1R, CD163, ITGAM, CD86, FCGR3B, and IL10RA on the development and progression of GD, supporting their role as potential biomarkers.</p>\",\"PeriodicalId\":50399,\"journal\":{\"name\":\"Hormones-International Journal of Endocrinology and Metabolism\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2025-05-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hormones-International Journal of Endocrinology and Metabolism\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s42000-025-00668-w\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hormones-International Journal of Endocrinology and Metabolism","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s42000-025-00668-w","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Hub genes and key pathways of Graves' disease: bioinformatics analysis and validation.
Objective: This study aims to identify hub genes associated with the onset and progression of Graves' disease (GD) with the goal of developing novel biomarkers to enhance diagnosis and improve patient outcomes.
Methods: mRNA profiles from thyroid tissue samples (24 GD vs. 24 normal controls) were obtained from GEO (GSE9340), ArrayExpress (E-MEXP-2612), and GTEx (Thyroid dataset). After batch correction via SVA algorithm, 366 differentially expressed genes (DEGs) were identified using limma. Functional enrichment, protein-protein interaction networks, and immune microenvironment analysis were performed. Hub genes were validated in clinical thyroid specimens (3 GD vs. 3 controls) using RT-qPCR.
Results: A total of 366 DEGs were identified in the diseased and normal groups. Among these, eight hub genes (TYROBP, CSF1R, CD163, ITGAM, CD86, FCGR3B, ITGB2, and IL10RA) showed strong correlations with immune cell content. These genes were predominantly enriched in pathways related to amino acid metabolism, viral protein interactions with cytokines and cytokine receptors, phagosome, chemokine signaling, programmed cell death, NF-κB, and other pathways. Additionally, these hub genes were linked to 39 regulatory factors. mRNA levels of these hub genes were validated in clinical samples through RT-qPCR. It is noteworthy that eight genes were found to be upregulated in GD samples.
Conclusion: The study highlights the potential impact of ITGB 2, TYROBP, CSF1R, CD163, ITGAM, CD86, FCGR3B, and IL10RA on the development and progression of GD, supporting their role as potential biomarkers.
期刊介绍：
Hormones-International Journal of Endocrinology and Metabolism is an international journal published quarterly with an international editorial board aiming at providing a forum covering all fields of endocrinology and metabolic disorders such as disruption of glucose homeostasis (diabetes mellitus), impaired homeostasis of plasma lipids (dyslipidemia), the disorder of bone metabolism (osteoporosis), disturbances of endocrine function and reproductive capacity of women and men.
Hormones-International Journal of Endocrinology and Metabolism particularly encourages clinical, translational and basic science submissions in the areas of endocrine cancers, nutrition, obesity and metabolic disorders, quality of life of endocrine diseases, epidemiology of endocrine and metabolic disorders.
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