Epigenomics最新文献_第2页

MicroRNAs signatures in small extracellular vesicles for psychological resilience in young adults using machine learning. 使用机器学习的小细胞外囊泡中的microrna特征对年轻人心理弹性的影响。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-10-01 Epub Date: 2025-09-10 DOI: 10.1080/17501911.2025.2558496

Chia-Hsuan Li, Bao-Yu Chen, Chih-Wei Lin, Shulan Hsieh, Cheng-Ta Yang, Joshua Oon Soo Goh, Yun-Hsuan Chang, Sheng-Hsiang Lin

{"title":"MicroRNAs signatures in small extracellular vesicles for psychological resilience in young adults using machine learning.","authors":"Chia-Hsuan Li, Bao-Yu Chen, Chih-Wei Lin, Shulan Hsieh, Cheng-Ta Yang, Joshua Oon Soo Goh, Yun-Hsuan Chang, Sheng-Hsiang Lin","doi":"10.1080/17501911.2025.2558496","DOIUrl":"10.1080/17501911.2025.2558496","url":null,"abstract":"Aims: Psychological resilience refers to an individual's capacity to adapt to adverse events. MicroRNAs (miRNAs) play a crucial role in regulating post-transcriptional processes, while small extracellular vesicles (sEVs) act as transport vehicles. This study aimed to employ genome-wide profiling to identify and validate differences in the expression of resilience-associated sEV-miRNAs between low resilience (LR) and high resilience (HR) in young adults.Methods: Eighty participants were divided into LR or HR based on the Connor - Davidson Resilience Scale (CD-RISC). The expression levels of the target sEV-miRNAs in LR and HR were compared and analyzed.Results: Expression analyses demonstrated significant differences in let-7b, miR-151b, miR-335, and miR-193a between LR and HR (p < 0.01), with let-7b showing the highest discriminative ability. The AUC values for each sEV-miRNA ranged from 0.74 to 0.94, based on logistic regression and three machine learning models: random forest, support vector machine, and eXtreme gradient boosting. Based on leave-one-out cross-validation in different models, the combined four sEV-miRNAs demonstrated strong performance for detecting LR (AUC = 0.87-0.90). Sex-specific differences were also observed, with female participants showing more pronounced resilience signatures in targeted sEV-miRNAs.Conclusions: These findings suggest that sEV-miRNAs hold potential as biomarkers for psychological resilience in young adults.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1043-1055"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Epigenetic alterations in prostate cancer: the role of chromatin remodeling. 前列腺癌的表观遗传改变：染色质重塑的作用。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-10-01 Epub Date: 2025-07-22 DOI: 10.1080/17501911.2025.2535938

Md Sadique Hussain, Yumna Khan, Mudasir Maqbool, Gyas Khan, Wedad Mawkili, Faroq Kamli, Ali Hanbashi, Prawez Alam

{"title":"Epigenetic alterations in prostate cancer: the role of chromatin remodeling.","authors":"Md Sadique Hussain, Yumna Khan, Mudasir Maqbool, Gyas Khan, Wedad Mawkili, Faroq Kamli, Ali Hanbashi, Prawez Alam","doi":"10.1080/17501911.2025.2535938","DOIUrl":"10.1080/17501911.2025.2535938","url":null,"abstract":"Prostate cancer (PCa) is one of the most common cancers in men, distinguished by a multifaceted pathogenesis that involves substantial epigenetic modifications. This article emphasizes the critical role of chromatin remodeling in PCa advancement. Chromatin remodeling, a key epigenetic mechanism, influences gene expression by modulating the chromatin structure through the action of specialized complexes such as SWI/SNF, ISWI, CHD, & INO80, thereby regulating genes vital to tumor progression. A comprehensive literature search was conducted using PubMed, Web of Science, and Scopus databases for studies published between 2000 and 2025, focusing on chromatin remodeling, epigenetic alterations, and therapeutic strategies in PCa. The review discusses the major epigenetic changes observed in PCa, including DNA and RNA methylation, histone modifications, and non-coding RNA (ncRNA)-mediated chromatin remodeling. The evolving epigenetic landscape shaped by these alterations offers insights into novel therapeutic opportunities. The clinical relevance of targeting chromatin remodeling complexes is explored, alongside existing therapies and potential future interventions. This review also addresses challenges in studying chromatin remodeling and highlights emerging technologies that could enhance understanding of PCa epigenetics. This comprehensive exploration underscores the promise of chromatin remodeling as both a biomarker and a therapeutic target in PCa management.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"967-991"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12490391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144689660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

DNA methylation-based health predictors: advances, applications, and perspectives. 基于DNA甲基化的健康预测：进展、应用和前景

IF 2.6 4区医学

Epigenomics Pub Date : 2025-10-01 Epub Date: 2025-08-26 DOI: 10.1080/17501911.2025.2550932

Zongli Xu

{"title":"DNA methylation-based health predictors: advances, applications, and perspectives.","authors":"Zongli Xu","doi":"10.1080/17501911.2025.2550932","DOIUrl":"10.1080/17501911.2025.2550932","url":null,"abstract":"DNA methylation (DNAm) has emerged as a powerful and dynamic biomarker for predicting health outcomes, biological aging, and disease risk. Unlike static genetic variants, DNAm is dynamic and influenced by environmental, lifestyle, and pathological factors, making it highly suitable for applications in personalized medicine. This review provides a comprehensive synthesis of recent advances in DNAm-based predictors, including epigenetic clocks, exposure biomarkers, disease risk models, and trait-specific estimators. We describe the diverse methodological frameworks underpinning these predictors, such as penalized regression, surrogate modeling and deep learning. We discuss their performance across various preprocessing strategies and study populations. Additionally, we highlight clinical and research applications, ethical considerations, and emerging challenges, such as issues of reproducibility, tissue specificity, population generalizability, and interpretability. Looking forward, we explore future directions emphasizing artificial intelligence, multiomics integration, and longitudinal modeling. By critically assessing current limitations and technological innovations, this review outlines a roadmap for advancing the development, validation, and responsible implementation of DNAm-based health predictors.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1083-1090"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144947488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

From allergens to epigenetics: how histone acetylation shapes immune gene expression in allergic diseases. 从过敏原到表观遗传学：组蛋白乙酰化如何影响过敏性疾病的免疫基因表达。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-10-01 Epub Date: 2025-08-30 DOI: 10.1080/17501911.2025.2548758

Xuejun Cai, Muhammed Afthab, Shadi Hambo, Mohamed Salem, Rasika Ramesh Bhitale, Hani Harb

引用次数: 0

Steroid hormone-mediated epigenetic programming during puberty: uncovering links to depression. 青春期类固醇激素介导的表观遗传程序：揭示与抑郁症的联系。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-10-01 Epub Date: 2025-09-05 DOI: 10.1080/17501911.2025.2554569

Elizabeth DeSouza, Georgia Kruck, Corina Nagy

{"title":"Steroid hormone-mediated epigenetic programming during puberty: uncovering links to depression.","authors":"Elizabeth DeSouza, Georgia Kruck, Corina Nagy","doi":"10.1080/17501911.2025.2554569","DOIUrl":"10.1080/17501911.2025.2554569","url":null,"abstract":"DNA methylation (DNAm) is a key epigenetic modification that dynamically regulates eukaryotic development over time. DNAm has been found to influence a variety of biological processes in both normative and pathological states, such as depression. Since DNAm can serve as an interface between environmental influence and gene expression, it is a mechanism studied in the context of many pathologies, including psychiatric. Depression is a complex and heterogeneous disorder strongly influenced by puberty, as evidenced by increased rates in both sexes after sexual maturation. However, this effect is more pronounced in females, contributing to its twofold increased lifetime prevalence compared to males. Additionally, depression is consistently associated with altered DNAm at specific genomic sites. In this review, we discuss how DNAm programming can affect functional pathways during puberty and in turn, influence disease outcomes. Here, we highlight the bidirectional relationship of steroid hormone surges during this sensitive period and DNAm, adding a layer of complexity and insight into the pathophysiology of depression. Specifically, we explore the extent of DNAm change throughout puberty, how it contributes to individual and sex-specific differences in puberty, and how it may influence the risk for depression.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1123-1135"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144999927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The NEAT1/miR-124-3p/CCL2 axis in chronic kidney disease progression: integrated bioinformatics analysis and experimental validation. NEAT1/miR-124-3p/CCL2轴在慢性肾脏疾病进展中的作用：综合生物信息学分析和实验验证

IF 2.6 4区医学

Epigenomics Pub Date : 2025-10-01 Epub Date: 2025-08-21 DOI: 10.1080/17501911.2025.2548762

Guanting Chen, Linqi Zhang, Yaoxian Wang, Jianfeng Wang, Kang Yang, Xixi Wang, Xu Chen

{"title":"The NEAT1/miR-124-3p/CCL2 axis in chronic kidney disease progression: integrated bioinformatics analysis and experimental validation.","authors":"Guanting Chen, Linqi Zhang, Yaoxian Wang, Jianfeng Wang, Kang Yang, Xixi Wang, Xu Chen","doi":"10.1080/17501911.2025.2548762","DOIUrl":"10.1080/17501911.2025.2548762","url":null,"abstract":"Background: Chronickidney disease (CKD) is a major global health burden lacking effectivetherapies. Renal interstitial fibrosis (RIF) is a key pathological driver ofCKD progression. This study aimed to identify novel diagnostic biomarkers and therapeutictargets.Research design and methods: Weanalyzed the GEO dataset GSE137570 to identify differentially expressed genes(DEGs). Protein-protein interaction (PPI) networks were constructed to screen HubGenes. A competing endogenous RNA (ceRNA) network was predicted. Validationincluded single-cell sequencing, in vitro epithelial-mesenchymal transition(EMT) models using Transforming growth factor-β 1 (TGF-β1)-treated TCMK1 cells,clinical samples (64 CKD patients, 20 healthy controls), and dual-luciferasereporter assays (DLRA).Results: FiveHub Genes (EGF, VCAN, CXCL1, MMP7, CCL2) were identified, with CCL2 being themost central. Enrichment analyses linked them to immune/inflammatory responses.DLRA confirmed specific targeting between miR-124-3p and both NEAT1 and CCL2,supporting the NEAT1/miR-124-3p/CCL2 axis. Clinically, serum CCL2 increasedwhile miR-124-3p and NEAT1 decreased with CKD progression; all three showedgood diagnostic accuracy for staging.Conclusions: EGF,VCAN, CXCL1, MMP7, and particularly CCL2 are potential CKDbiomarkers/therapeutic targets. The NEAT1/miR-124-3p/CCL2 axis is a keyregulatory pathway in CKD. Key limitations include the moderate sample sizes inbioinformatics and clinical cohorts.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"935-952"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12490396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144947536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel approaches and applications in identifying DNA methylation markers of cardio-kidney-metabolic disease. 鉴定心肾代谢性疾病DNA甲基化标志物的新方法及应用。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-10-01 Epub Date: 2025-08-12 DOI: 10.1080/17501911.2025.2540273

Chang Liu, Alexandra Young, Nanzha Abi, Junyu Chen, Matheus Fernandes Gyorfy, Yanping Li, Sophia Sun, Jin J Zhou, Yan V Sun

{"title":"Novel approaches and applications in identifying DNA methylation markers of cardio-kidney-metabolic disease.","authors":"Chang Liu, Alexandra Young, Nanzha Abi, Junyu Chen, Matheus Fernandes Gyorfy, Yanping Li, Sophia Sun, Jin J Zhou, Yan V Sun","doi":"10.1080/17501911.2025.2540273","DOIUrl":"10.1080/17501911.2025.2540273","url":null,"abstract":"Cardio-kidney-metabolic (CKM) diseases represent a major public health challenge, accounting for a large proportion of global burden of morbidity and mortality. These conditions share risk factors, including genetic predisposition, environmental exposures, and lifestyle influences, which collectively drive disease development and progression. Epigenetic modifications, particularly DNA methylation (DNAm), serve as key mediators and biomarkers between these risk factors and disease phenotypes by regulating gene expression without altering the DNA sequence. Epigenome-wide association studies have identified DNAm markers associated with CKM diseases and related phenotypes, highlighting both shared pathways and disease-specific epigenetic signatures in inflammation, metabolic dysfunction, and aging-related processes. Longitudinal studies further demonstrate the dynamic nature of DNAm changes over time, offering insights into disease trajectories. Additionally, methylation risk scores integrating multiple epigenetic markers show promise in improving disease prediction and risk stratification beyond traditional clinical factors. To synthesize the current evidence, we conducted a targeted literature search in PubMed for English-language, peer-reviewed articles published between 2014 and the present. Future research leveraging large, well-phenotyped cohorts, advanced statistical methods, and innovative study designs will be critical for uncovering novel biomarkers, refining risk prediction models, and developing targeted epigenetic therapies to mitigate the global burden.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"993-1008"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12399777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144820958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The functional and therapeutic potential of epitranscriptomics in breast cancer. 表转录组学在乳腺癌中的功能和治疗潜力。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-10-01 Epub Date: 2025-08-18 DOI: 10.1080/17501911.2025.2542113

Rachel L Thompson, Jennifer Lothion-Roy, Eleanor Bellows, Corinne L Woodcock, Jorja Jackson-Oxley, Maria Haque, Dhruvika Varun, Amber A Kumari, Mansour Alsaleem, Simone de Brot, Atara Ntekim, Musalwa Muyangwa-Semanova, Emad Rakha, Srinivasan Madhusudan, Nathan Archer, Rupert G Fray, Sheeba Irshad, Richard D Emes, Jennie N Jeyapalan, Catrin S Rutland, Nigel P Mongan, Anna E Harris

{"title":"The functional and therapeutic potential of epitranscriptomics in breast cancer.","authors":"Rachel L Thompson, Jennifer Lothion-Roy, Eleanor Bellows, Corinne L Woodcock, Jorja Jackson-Oxley, Maria Haque, Dhruvika Varun, Amber A Kumari, Mansour Alsaleem, Simone de Brot, Atara Ntekim, Musalwa Muyangwa-Semanova, Emad Rakha, Srinivasan Madhusudan, Nathan Archer, Rupert G Fray, Sheeba Irshad, Richard D Emes, Jennie N Jeyapalan, Catrin S Rutland, Nigel P Mongan, Anna E Harris","doi":"10.1080/17501911.2025.2542113","DOIUrl":"10.1080/17501911.2025.2542113","url":null,"abstract":"Breast cancer (BCa) is one of the most commonly diagnosed malignancies worldwide and is clinically heterogenous. BCa is classified into distinct histopathological and molecular subtypes that inform diagnosis, treatment, and prognosis. Although therapeutic advances, particularly targeted therapies, have improved outcomes, metastatic BCa remains an unmet clinical need. In addition, treatment options remain limited especially for triple negative BCa (TNBC). There is an urgent need to develop novel approaches that can prevent, delay, or reverse disease progression in these patients. The roles of genetic and epigenetic alterations in BCa are well established. Emerging evidence highlights the dysregulation of epitranscriptomic mechanisms involving covalent RNA modifications as a contributing factor in BCa pathogenesis. Notably, recent evidence supports functional crosstalk between epigenetic and epitranscriptomic processes with potential clinical and therapeutic relevance. This review explores key epitranscriptomic RNA modifications, m6A, m6Am, m5C, m7G, and m1A in the context of BCa. The functional consequences of the epitranscriptomic regulators (\"writers,\" \"erasers\", and \"readers\") are discussed alongside the accumulating evidence of their contribution to cancer development and progression. This review considers how RNA modifications and their regulators might serve as biomarkers or therapeutic targets and offers new directions for translational research and clinical intervention in BCa.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1009-1028"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12490386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144872091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Epigenetic synthetic lethality as a cancer therapeutic strategy: synergy of experimental and computational approaches. 表观遗传合成致死率作为一种癌症治疗策略：实验和计算方法的协同作用。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-10-01 Epub Date: 2025-08-25 DOI: 10.1080/17501911.2025.2548756

Maria Farina-Morillas, Laia Ollé-Monràs, Silvana Ce Maas, Isabel de Rojas-P, Miguel F Segura, Jose A Seoane

{"title":"Epigenetic synthetic lethality as a cancer therapeutic strategy: synergy of experimental and computational approaches.","authors":"Maria Farina-Morillas, Laia Ollé-Monràs, Silvana Ce Maas, Isabel de Rojas-P, Miguel F Segura, Jose A Seoane","doi":"10.1080/17501911.2025.2548756","DOIUrl":"10.1080/17501911.2025.2548756","url":null,"abstract":"Cancer treatment is an ongoing challenge, as directly targeting oncogenic drivers is often unfeasible in many patients due to the lack of druggable targets. This has led to the exploration of alternative strategies, such as exploiting synthetic lethality (SL) relationships between genes. SL facilitates the indirect targeting of oncogenic drivers, as exemplified by the clinical success of PARP inhibitors against BRCA-mutated tumors. Advances in high-throughput perturbation screens and multi-omics technologies have deepened our understanding of SL relationships, while computational models enhance SL predictions to better reflect biological complexity. However, while numerous experimental and computational methods have been developed to identify SL interactions, difficulties remain in translating these findings into clinical applications.This review combines recent progress on SL relationships in cancer with emerging insights into epigenetic regulation, highlighting how epigenetic drugs (epidrugs) can provide new opportunities for targeted interventions, offering a way to minimize off-target effects and enhance therapeutic precision. To advance SL-based therapies, efforts must focus not only on identifying new SL interactions but also on consolidating existing knowledge and integrating experimental and computational approaches to characterize the vulnerabilities of cancer cells. Strengthening this foundation will be critical for the effective development of SL-based cancer treatments.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1069-1081"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144947496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Blood-based DNA methylation markers for autism spectrum disorder identification using machine learning. 使用机器学习识别自闭症谱系障碍的血液DNA甲基化标记。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-10-01 Epub Date: 2025-09-09 DOI: 10.1080/17501911.2025.2557186

Yahui Yang, Zhiyuan Sun, Fengshu Zhu, Aiguo Chen

{"title":"Blood-based DNA methylation markers for autism spectrum disorder identification using machine learning.","authors":"Yahui Yang, Zhiyuan Sun, Fengshu Zhu, Aiguo Chen","doi":"10.1080/17501911.2025.2557186","DOIUrl":"10.1080/17501911.2025.2557186","url":null,"abstract":"Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder lacking objective biomarkers for early diagnosis. DNA methylation is a promising epigenetic marker, and machine learning offers a data-driven classification approach. However, few studies have examined whole-blood, genome-wide DNA methylation profiles for ASD diagnosis in school-aged children.Methods: We analyzed genome-wide DNA methylation data from GEO dataset GSE113967, including 52 children with ASD and 48 typically developing (TD) controls. Differentially methylated positions (DMPs) were identified, and feature selection was performed using support vector machine-recursive feature elimination with cross-validation (SVM-RFECV). Classification models were developed using random forest (RF), extreme gradient boosting (XGBoost), and decision tree (DT) classifiers. A nomogram visualized feature contributions.Results: A total of 138 DMPs differentiated ASD from TD children. Eleven CpG sites selected by SVM-RFECV formed the basis for model construction. RF and XGBoost achieved the highest accuracy (75%), with DT reaching 70%. Functional annotation indicated enrichment in cell adhesion and immune-related pathways.Conclusions: This exploratory study demonstrates the feasibility of integrating peripheral blood DNA methylation data with machine learning to distinguish children with ASD. While limited by sample size and moderate accuracy, this study provides methodological insights into the feasibility of integrating epigenetic and computational approaches for ASD-related biomarker exploration.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1029-1042"},"PeriodicalIF":2.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145023038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0