Identifying effective immune biomarkers in alopecia areata diagnosis based on machine learning methods.

IF 3.3 3区 医学 Q2 MEDICAL INFORMATICS BMC Medical Informatics and Decision Making Pub Date : 2025-01-14 DOI:10.1186/s12911-025-02853-8
Qingde Zhou, Lan Lan, Wei Wang, Xinchang Xu
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Abstract

Background: Alopecia areata (AA) is a common non-scarring hair loss disorder associated with autoimmune conditions. However, the pathobiology of AA is not well understood, and there is no targeted therapy available for AA.  METHODS: In this study, differential gene expression analysis, immune status assessment, weighted correlation network analysis (WGCNA), and functional enrichment analysis were performed to identify shared genes associated with both immunological response and AA. Machine learning methods were then used to identify three hub genes as potential diagnostic markers for AA. External validation was performed, and the correlation of hub genes with immune infiltration, immune checkpoint genes, and key marker genes and pathways were evaluated.

Results: Three hub genes were identified, which accurately predicted the progression of AA and the immune status. The hub genes were found to be diagnostic markers for AA with high predictive accuracy. External validation confirmed the efficacy of these markers in identifying AA patients.

Conclusion: Overall, the study provides a novel approach for the diagnosis, prevention, and treatment of AA. The findings could potentially lead to the development of targeted therapies for AA based on the identified hub genes. The study also highlights the potential of machine learning and bioinformatics analysis in identifying new biomarkers for autoimmune diseases.

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基于机器学习方法识别斑秃诊断中有效的免疫生物标志物。
背景:斑秃(AA)是一种常见的与自身免疫性疾病相关的非瘢痕性脱发疾病。然而,AA的病理生物学尚不清楚,也没有针对AA的靶向治疗方法。方法:本研究通过差异基因表达分析、免疫状态评估、加权相关网络分析(WGCNA)和功能富集分析,鉴定与免疫反应和AA相关的共享基因。然后使用机器学习方法确定三个中心基因作为AA的潜在诊断标记。进行外部验证,评估枢纽基因与免疫浸润、免疫检查点基因、关键标记基因和通路的相关性。结果:鉴定出3个枢纽基因,可准确预测AA的进展和免疫状态。中心基因是AA的诊断标记,具有较高的预测精度。外部验证证实了这些标记物在识别AA患者中的有效性。结论:本研究为AA的诊断、预防和治疗提供了新的途径。这一发现可能会导致基于已确定的中枢基因的AA靶向治疗的发展。该研究还强调了机器学习和生物信息学分析在识别自身免疫性疾病的新生物标志物方面的潜力。
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来源期刊
CiteScore
7.20
自引率
5.70%
发文量
297
审稿时长
1 months
期刊介绍: BMC Medical Informatics and Decision Making is an open access journal publishing original peer-reviewed research articles in relation to the design, development, implementation, use, and evaluation of health information technologies and decision-making for human health.
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