{"title":"帕金森病诊断和免疫浸润分析的七基因标记。","authors":"Chengqun Wei, Rui Xue, Zhan Gao, Hongyan Zhu, Xiuzhi Xu","doi":"10.1017/thg.2025.10008","DOIUrl":null,"url":null,"abstract":"<p><p>The objective was to identify the predictive markers and develop a diagnostic model with predictive markers for Parkinson's disease (PD) and investigate the roles of immune cells in the disease pathology. Microarray datasets of PD and control samples were obtained from the Gene Expression Omnibus (GEO) database. We then performed a comprehensive analysis of differentially expressed genes (DEGs), functional enrichment, and protein-protein interactions to pinpoint a set of promising candidate genes. To establish a diagnosis model for PD, we utilized machine learning algorithms and evaluated the corresponding diagnostic performance using the receiver operating characteristic (ROC) curve and the area under the ROC curve (AUC). Additionally, the differential abundance of immune cell subsets between PD and control samples was evaluated using the single-sample Gene Set Enrichment Analysis (ssGSEA) method. A total of 264 DEGs were identified in GSE72267. The PPI network ultimately identified 30 hub genes for model construction. Seven genes, namely <i>CD79B</i>, <i>CD40</i>, <i>CCR9</i>, <i>ADRA2A</i>, <i>SIGLEC1</i>, <i>FLT3LG</i>, and <i>THBD</i>, were identified as diagnostic markers for PD, with an AUC of 0.870. This seven-gene signature model was subsequently validated in an independent cohort (GSE22491), demonstrating an AUC of 0.825. Ultimately, the infiltration of 28 immune cells showed that activated B cells, natural killer T cells, and regulatory T cells may contribute to the occurrence and progression of PD. We also found complex associations between these genes and immune cells. <i>CD79B</i>, <i>CD40</i>, <i>CCR9</i>, <i>ADRA2A</i>, <i>SIGLEC1</i>, <i>FLT3LG</i>, and <i>THBD</i> were identified as diagnostic markers for PD, and the infiltration of immune cells may contribute to the pathogenesis of the disease.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-9"},"PeriodicalIF":1.2000,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Seven-Gene Signature for the Diagnosis of Parkinson's Disease and Immune Infiltration Analysis.\",\"authors\":\"Chengqun Wei, Rui Xue, Zhan Gao, Hongyan Zhu, Xiuzhi Xu\",\"doi\":\"10.1017/thg.2025.10008\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The objective was to identify the predictive markers and develop a diagnostic model with predictive markers for Parkinson's disease (PD) and investigate the roles of immune cells in the disease pathology. Microarray datasets of PD and control samples were obtained from the Gene Expression Omnibus (GEO) database. We then performed a comprehensive analysis of differentially expressed genes (DEGs), functional enrichment, and protein-protein interactions to pinpoint a set of promising candidate genes. To establish a diagnosis model for PD, we utilized machine learning algorithms and evaluated the corresponding diagnostic performance using the receiver operating characteristic (ROC) curve and the area under the ROC curve (AUC). Additionally, the differential abundance of immune cell subsets between PD and control samples was evaluated using the single-sample Gene Set Enrichment Analysis (ssGSEA) method. A total of 264 DEGs were identified in GSE72267. The PPI network ultimately identified 30 hub genes for model construction. Seven genes, namely <i>CD79B</i>, <i>CD40</i>, <i>CCR9</i>, <i>ADRA2A</i>, <i>SIGLEC1</i>, <i>FLT3LG</i>, and <i>THBD</i>, were identified as diagnostic markers for PD, with an AUC of 0.870. This seven-gene signature model was subsequently validated in an independent cohort (GSE22491), demonstrating an AUC of 0.825. Ultimately, the infiltration of 28 immune cells showed that activated B cells, natural killer T cells, and regulatory T cells may contribute to the occurrence and progression of PD. We also found complex associations between these genes and immune cells. <i>CD79B</i>, <i>CD40</i>, <i>CCR9</i>, <i>ADRA2A</i>, <i>SIGLEC1</i>, <i>FLT3LG</i>, and <i>THBD</i> were identified as diagnostic markers for PD, and the infiltration of immune cells may contribute to the pathogenesis of the disease.</p>\",\"PeriodicalId\":23446,\"journal\":{\"name\":\"Twin Research and Human Genetics\",\"volume\":\" \",\"pages\":\"1-9\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2025-08-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Twin Research and Human Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1017/thg.2025.10008\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Twin Research and Human Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1017/thg.2025.10008","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
A Seven-Gene Signature for the Diagnosis of Parkinson's Disease and Immune Infiltration Analysis.
The objective was to identify the predictive markers and develop a diagnostic model with predictive markers for Parkinson's disease (PD) and investigate the roles of immune cells in the disease pathology. Microarray datasets of PD and control samples were obtained from the Gene Expression Omnibus (GEO) database. We then performed a comprehensive analysis of differentially expressed genes (DEGs), functional enrichment, and protein-protein interactions to pinpoint a set of promising candidate genes. To establish a diagnosis model for PD, we utilized machine learning algorithms and evaluated the corresponding diagnostic performance using the receiver operating characteristic (ROC) curve and the area under the ROC curve (AUC). Additionally, the differential abundance of immune cell subsets between PD and control samples was evaluated using the single-sample Gene Set Enrichment Analysis (ssGSEA) method. A total of 264 DEGs were identified in GSE72267. The PPI network ultimately identified 30 hub genes for model construction. Seven genes, namely CD79B, CD40, CCR9, ADRA2A, SIGLEC1, FLT3LG, and THBD, were identified as diagnostic markers for PD, with an AUC of 0.870. This seven-gene signature model was subsequently validated in an independent cohort (GSE22491), demonstrating an AUC of 0.825. Ultimately, the infiltration of 28 immune cells showed that activated B cells, natural killer T cells, and regulatory T cells may contribute to the occurrence and progression of PD. We also found complex associations between these genes and immune cells. CD79B, CD40, CCR9, ADRA2A, SIGLEC1, FLT3LG, and THBD were identified as diagnostic markers for PD, and the infiltration of immune cells may contribute to the pathogenesis of the disease.
期刊介绍:
Twin Research and Human Genetics is the official journal of the International Society for Twin Studies. Twin Research and Human Genetics covers all areas of human genetics with an emphasis on twin studies, genetic epidemiology, psychiatric and behavioral genetics, and research on multiple births in the fields of epidemiology, genetics, endocrinology, fetal pathology, obstetrics and pediatrics.
Through Twin Research and Human Genetics the society aims to publish the latest research developments in twin studies throughout the world.