Hub genes and key pathways of Graves' disease: bioinformatics analysis and validation.

IF 2.4 4区医学 Q3 ENDOCRINOLOGY & METABOLISM

Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2025-05-19 DOI:10.1007/s42000-025-00668-w

Duan-Rong Zhuang, Xin Hu, Hui-Bin Huang

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引用次数: 0

Abstract

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.

查看原文本刊更多论文

Graves病的枢纽基因和关键通路：生物信息学分析和验证。

目的：本研究旨在鉴定与Graves病（GD）发病和进展相关的枢纽基因，以开发新的生物标志物来提高诊断和改善患者预后。方法：从GEO （GSE9340）、ArrayExpress （E-MEXP-2612）和GTEx（甲状腺数据集）中获得甲状腺组织样本（24例GD和24例正常对照）的mRNA谱。通过SVA算法进行批量校正后，利用limma鉴定出366个差异表达基因（deg）。进行了功能富集、蛋白相互作用网络和免疫微环境分析。应用RT-qPCR技术在临床甲状腺标本（3例GD和3例对照）中验证Hub基因。结果：病变组和正常组共检出366个deg。其中，8个枢纽基因（TYROBP、CSF1R、CD163、ITGAM、CD86、FCGR3B、ITGB2和IL10RA）与免疫细胞含量有较强的相关性。这些基因主要富集于氨基酸代谢、病毒蛋白与细胞因子和细胞因子受体相互作用、吞噬体、趋化因子信号传导、程序性细胞死亡、NF-κB等通路。此外，这些中心基因与39个调节因子相关。通过RT-qPCR在临床样本中验证这些枢纽基因的mRNA水平。值得注意的是，GD样本中有8个基因表达上调。结论：本研究强调了itgb2、TYROBP、CSF1R、CD163、ITGAM、CD86、FCGR3B和IL10RA对GD发生和进展的潜在影响，支持了它们作为潜在生物标志物的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Hormones-International Journal of Endocrinology and Metabolism ENDOCRINOLOGY & METABOLISM-

CiteScore

5.90

自引率

0.00%

发文量

审稿时长

6-12 weeks

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.