Epigenomics最新文献_第10页

Mitochondrial DNA copy number reduction via in vitro TFAM knockout remodels the nuclear epigenome and transcriptome. 通过体外敲除TFAM减少线粒体DNA拷贝数重塑核表观基因组和转录组。

IF 2.6 4区医学

Epigenomics Pub Date : 2026-01-01 Epub Date: 2025-12-23 DOI: 10.1080/17501911.2025.2603883

Phyo W Win, Julia Nguyen, Elly H Shin, Tyler S Nagano, Brent Selimi, Katie Hong, Anahita M Meybodi, Bradley P Yates, Emma V Burke, David E Carter, Gregory A Newby, Charles Newcomb, Dan E Arking, Christina A Castellani

{"title":"Mitochondrial DNA copy number reduction via in vitro TFAM knockout remodels the nuclear epigenome and transcriptome.","authors":"Phyo W Win, Julia Nguyen, Elly H Shin, Tyler S Nagano, Brent Selimi, Katie Hong, Anahita M Meybodi, Bradley P Yates, Emma V Burke, David E Carter, Gregory A Newby, Charles Newcomb, Dan E Arking, Christina A Castellani","doi":"10.1080/17501911.2025.2603883","DOIUrl":"10.1080/17501911.2025.2603883","url":null,"abstract":"Aims: Mitochondrial DNA copy number (mtDNA-CN) is associated with several age-related chronic diseases and is a predictor of all-cause mortality. Here, we examine site-specific differential nuclear DNA (nDNA) methylation and differential gene expression resulting from in vitro reduction of mtDNA-CN to uncover shared genes and biological pathways mediating the effect of mtDNA-CN on disease.Materials and methods: Epigenome and transcriptome profiles were generated for three independent human embryonic kidney (HEK293T) cell lines harboring a mitochondrial transcription factor A (TFAM) knockout generated via CRISPR-Cas9, and matched control lines.Results: We identified 2924 differentially methylated sites, 67 differentially methylated regions, and 102 differentially expressed genes associated with mtDNA-CN. Integrated analysis uncovered 24 Gene-CpG pairs. GABAA receptor genes and related pathways, the neuroactive ligand signaling pathway, ABCD1/2 gene activity, and cell signaling processes were overrepresented, providing insight into the underlying biological mechanisms facilitating these associations. We also report evidence implicating chromatin state regulatory mechanisms as modulators of mtDNA-CN effect on gene expression.Conclusions: We demonstrate that mitochondrial DNA variation signals to the nuclear DNA epigenome and transcriptome and may lead to nuclear remodeling relevant to development, aging, and complex disease.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"27-44"},"PeriodicalIF":2.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145810078","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

Genome-wide methylation patterns associated with chronic stress. 与慢性应激相关的全基因组甲基化模式。

IF 3.1 4区医学

Epigenomics Pub Date : 2026-01-01 Epub Date: 2026-01-09 DOI: 10.1080/17501911.2026.2613012

Nicholas O'Toole, Tie-Yuan Zhang, Eamon Fitzgerald, Xianglan Wen, Josie Diorio, Patricia P Silveira, Benoit Labonté, Eric J Nestler, Michael J Meaney

{"title":"Genome-wide methylation patterns associated with chronic stress.","authors":"Nicholas O'Toole, Tie-Yuan Zhang, Eamon Fitzgerald, Xianglan Wen, Josie Diorio, Patricia P Silveira, Benoit Labonté, Eric J Nestler, Michael J Meaney","doi":"10.1080/17501911.2026.2613012","DOIUrl":"10.1080/17501911.2026.2613012","url":null,"abstract":"Background: Chronic social defeat stress (CSDS) is a validated animal model for depression that produces sustained behavioral and transcriptional changes in the brain, notably the nucleus accumbens (nAcc).Research design and methods: We used genome-wide analysis of cytosine methylation patterns in mouse nAcc following CSDS to identify candidate epigenetic mechanisms.Results: CSDS produced extensive differential methylation, increasing CG hypermethylation compared to control conditions; non-CG methylation showed the opposite trend. Highly differentially methylated (DM) regions included several genes implicated in behavioral effects of CSDS, including estrogen receptor alpha (Esr1).Conclusions: Analysis of DM sites within gene bodies revealed ß-catenin as a hub gene of a network including the ß-catenin-related WNT/frizzled signaling pathway. Analysis of DM sites upstream of transcription start sites revealed a gene network with the Tcf4 transcription factor as a hub. Genes DM within the gene body were enriched for synaptic function and primarily expressed in D1+ and D2+ medium spiny neurons, which, like the WNT/ß-catenin pathway, are estrogen sensitive and implicated in the behavioral effects of CSDS. We found significant overlap between DM genes associated with CSDS and those associated with major depressive disorder in genome-wide association studies, suggesting that effects on DNA methylation are implicated in the molecular pathways that link chronic stress to depression.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"73-88"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12863070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145932735","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

ALKBH5-mediated m6A demethylation of TXNDC5 drives malignant progression in gastric cancer. alkbh5介导的TXNDC5 m6A去甲基化驱动胃癌恶性进展。

IF 2.6 4区医学

Epigenomics Pub Date : 2026-01-01 Epub Date: 2025-11-11 DOI: 10.1080/17501911.2025.2586450

Wenkun Peng, Xiaoquan Wei, Feifei Zhou, Hongwei Xu

{"title":"ALKBH5-mediated m6A demethylation of TXNDC5 drives malignant progression in gastric cancer.","authors":"Wenkun Peng, Xiaoquan Wei, Feifei Zhou, Hongwei Xu","doi":"10.1080/17501911.2025.2586450","DOIUrl":"10.1080/17501911.2025.2586450","url":null,"abstract":"Background: Gastric cancer (GC) remains a leading cause of cancer-related mortality worldwide. N6-methyladenosine (m6A) modification plays a critical role in post-transcriptional gene regulation. This study aimed to elucidate the molecular mechanism by which the RNA demethylase ALKBH5 regulates GC progression through m6A modification of thioredoxin domain-containing protein 5 (TXNDC5).Methods: Differential expression models of ALKBH5 and TXNDC5 were established in GC cells using RNA interference and gene overexpression. Methylated RNA immunoprecipitation (MeRIP-qPCR), qPCR, and Western blot were performed to assess ALKBH5-mediated m6A modification and its effect on TXNDC5 expression. Functional assays, including proliferation, migration, and invasion, as well as a xenograft mouse model, were used to evaluate their roles in GC progression.Results: ALKBH5 was significantly upregulated in GC tissues and cells. Overexpression of ALKBH5 stabilized TXNDC5 expression in an m6A-dependent manner, thereby promoting malignant phenotypes. Conversely, ALKBH5 knockdown increased m6A methylation of TXNDC5, reduced TXNDC5 protein expression, and suppressed GC cell proliferation, migration, and invasion. In vivo experiments confirmed that loss of ALKBH5 impaired tumor growth.Conclusions: Our findings demonstrate that the ALKBH5-TXNDC5 axis drives GC progression through m6A-dependent regulation, highlighting ALKBH5 as a potential therapeutic target for GC.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"15-26"},"PeriodicalIF":2.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145488193","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

Blood and adipose tissue DNA methylation in adults born preterm with a very low birth weight - a sibling comparison study. 出生体重极低的早产儿血液和脂肪组织DNA甲基化——一项兄弟姐妹比较研究。

IF 2.6 4区医学

Epigenomics Pub Date : 2026-01-01 Epub Date: 2025-11-17 DOI: 10.1080/17501911.2025.2583893

Helena H Hauta-Alus, Justiina Ronkainen, Juho Kuula, Darina Czamara, Anni Heiskala, Samuel Sandboge, Johan Björkqvist, Nina Kaseva, Katri Räikkönen, Kirsi H Pietiläinen, Sylvain Sebert, Eero Kajantie

{"title":"Blood and adipose tissue DNA methylation in adults born preterm with a very low birth weight - a sibling comparison study.","authors":"Helena H Hauta-Alus, Justiina Ronkainen, Juho Kuula, Darina Czamara, Anni Heiskala, Samuel Sandboge, Johan Björkqvist, Nina Kaseva, Katri Räikkönen, Kirsi H Pietiläinen, Sylvain Sebert, Eero Kajantie","doi":"10.1080/17501911.2025.2583893","DOIUrl":"10.1080/17501911.2025.2583893","url":null,"abstract":"Background: Preterm birth and very low birth weight (VLBW; <1500 g) increase risks for poor health outcomes, potentially mediated by epigenetic modifications such as DNA methylation (DNAm). We hypothesized that DNAm differs between VLBW adults and their siblings in blood and adipose tissue.Methods: We studied 75 adults born preterm with VLBW and 73 same-sex sibling controls from the Adults Born Preterm Sibling Study. DNAm at cytosine-guanine dinucleotide (CpG) sites in blood and adipose tissue was assessed using Illumina EPIC 850K at a mean age of 29 years. Biological pathways were investigated with QIAGEN ingenuity pathway analysis (IPA).Results: No differences were observed in blood DNAm. In adipose tissue, 458 CpG sites were differentially methylated (FDR p < 0.05) between VLBW and siblings. Top sites were annotated to genes related to lipid metabolism (cg00264176 (FADS2), 0.077 (0.007), FDR p = 3.24 × 10-14) and neural development (cg08277679 (KIF26A), 0.053 (0.005), FDR p = 8.22 × 10-12). IPA identified enrichment for 81 pathways (FDR p < 0.05).Conclusion: Our results suggest tissue-specific DNAm differences in VLBW adults compared to their siblings. The changes cluster in pathways related to lipid metabolism, neurodevelopment, and cardiometabolic regulation, suggesting lasting tissue-specific epigenetic modifications in VLBW adults.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1-14"},"PeriodicalIF":2.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145539438","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

5mC and 5hmC methylation sequencing: the power of 6-base sequencing in a multiomic era. 5mC和5hmC甲基化测序：6碱基测序在多组学时代的力量。

IF 2.6 4区医学

Epigenomics Pub Date : 2026-01-01 Epub Date: 2025-11-12 DOI: 10.1080/17501911.2025.2586452

Robert Crawford, Tom Charlesworth, Stephen Riffle, Kurt Yardley, Robert Osborne

引用次数: 0

Recent advances in methodologies of epigenomics. 表观基因组学方法研究进展。

IF 2.6 4区医学

Epigenomics Pub Date : 2026-01-01 Epub Date: 2025-11-03 DOI: 10.1080/17501911.2025.2571391

Hiroaki Ohishi, Wan Kin Au Yeung

{"title":"Recent advances in methodologies of epigenomics.","authors":"Hiroaki Ohishi, Wan Kin Au Yeung","doi":"10.1080/17501911.2025.2571391","DOIUrl":"10.1080/17501911.2025.2571391","url":null,"abstract":"Rapid methodological breakthroughs over the past ten years have transformed epigenomics from bulk, population-averaged assays into single-cell, multi-omic, and intracellular spatial investigations. This review surveys the interconnected technology pillars that now map the epigenome with unprecedented breadth and resolution. First, advances in next-generation and long-read sequencing empower investigators to chart chromatin accessibility, histone and DNA modifications, and three-dimensional higher-order chromatin structure in thousands of individual cells while retaining allele-specific information across kilobase-long molecules. Second, live-cell fluorescence probes and multiplexed chromatin tracing enable visualizing the dynamic organization of epigenetic marks and genome architecture of intact nuclei and tissues. Third, integrative platforms merge base-level reads with their native 3D coordinates, providing a holistic view of gene regulation in physiologic context. We distill key biological insights yielded by each methodology, discuss unresolved and persistent limitations, and outline future directions toward routine, cost-effective investigations. Together, these innovations are redefining how we interrogate chromatin biology in health and disease.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"117-135"},"PeriodicalIF":2.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826720/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145430586","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

Epigenomic alterations in psychiatric disorders and glioblastoma. 精神疾病和胶质母细胞瘤的表观基因组改变。

IF 2.6 4区医学

Epigenomics Pub Date : 2026-01-01 Epub Date: 2025-10-11 DOI: 10.1080/17501911.2025.2572960

Julija Šmon, Ivana Jovčevska, Alja Videtič Paska, Katarina Kouter

{"title":"Epigenomic alterations in psychiatric disorders and glioblastoma.","authors":"Julija Šmon, Ivana Jovčevska, Alja Videtič Paska, Katarina Kouter","doi":"10.1080/17501911.2025.2572960","DOIUrl":"10.1080/17501911.2025.2572960","url":null,"abstract":"Brain disorders are among the most debilitating, costly and therapeutically challenging conditions worldwide. Therefore, there is a growing need for identification of biomarkers to support diagnostic, prognostic and therapeutic procedures. Technological advances are enabling increasingly precise, high-throughput profiling of epigenetic modifications, and the potential reversibility of epigenetic marks makes them a promising target for therapeutic intervention. Recent research on in-vitro models, post-mortem brain samples and peripheral tissues from living individuals has suggested that epigenetic mechanisms are involved in the pathogenesis of chronic mental illnesses, functioning as distal or proximal risk factors and mediating the long-term effects of environmental stressors on brain function. In brain cancers, including the highly lethal glioblastoma, epigenetic dysregulation (especially DNA methylation patterns) is already implicated in tumor classification as it contributes to cellular heterogeneity and may drive tumor progression. This review examines the multifaceted role of epigenomic regulation of brain gene expression, focusing on psychiatric disorders and primary brain malignancies such as glioblastoma. We summarize the technological advances that have enabled high-throughput and high-resolution exploration of the epigenome. Furthermore, we present the current knowledge of epigenomic signatures that may contribute to brain pathology and discuss their potential for biomarker discovery and the advancement of personalized medicine.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"137-150"},"PeriodicalIF":2.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826710/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145274274","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

Epigenome-wide mediation analysis identified Cytosine-phosphate-Guanine sites linking environmental factors with diabetes indicators. 全表观基因组中介分析鉴定了胞嘧啶-磷酸-鸟嘌呤位点，将环境因素与糖尿病指标联系起来。

IF 2.6 4区医学

Epigenomics Pub Date : 2026-01-01 Epub Date: 2025-12-22 DOI: 10.1080/17501911.2025.2606041

Wan-Yu Lin

{"title":"Epigenome-wide mediation analysis identified Cytosine-phosphate-Guanine sites linking environmental factors with diabetes indicators.","authors":"Wan-Yu Lin","doi":"10.1080/17501911.2025.2606041","DOIUrl":"10.1080/17501911.2025.2606041","url":null,"abstract":"Aims: Environmental factors can alter DNA methylation (DNAm) levels, influence gene expression, and then change fasting glucose (FG) or hemoglobin A1c (HbA1c).Methods: Through analyzing DNAm data of 2366 Taiwan Biobank individuals aged between 30 and 70 years, I evaluated the role of DNAm in mediating the associations of seven non-genetic factors (BMI, chronological age, sex, smoking, drinking alcoholic beverages, education, and regular exercise) with FG and HbA1c.Results: Among 846,232 Cytosine-phosphate-Guanine (CpG) sites, the single-mediator model explored that 21, 15, 10, 3, 3, and 1 CpGs significantly mediated (p < 6.6E-9) the BMI-HbA1c, BMI-FG, sex-FG, age-FG, age-HbA1c, and drinking-HbA1c associations, respectively. The multiple-mediator model considered all significant mediators and selected the model with the smallest Akaike Information Criterion, and identified 8 CpGs that linked exposures (BMI, sex, age, and drinking) to diabetes indicators. Seven out of the 8 CpGs have been reported to be associated with diabetes, FG, HbA1c, or insulin resistance in previous epigenome-wide association studies.Conclusion: Four of the 8 CpGs (cg19693031, cg04816311, cg00574958, and cg11024682) were associated with the expression of genes implicated in diabetes and metabolism, including the TXNIP, GPR146, CPT1A, and SREBF1 genes. These findings highlight the underlying epigenetic mechanism linking non-genetic factors with diabetes.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"45-54"},"PeriodicalIF":2.6,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145803608","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

Inter-individual differentially methylated region-targeted EWAS reveals epigenetic signatures of early childhood adversity. 个体间差异甲基化区域靶向EWAS揭示了早期儿童逆境的表观遗传特征。

IF 3.1 4区医学

Epigenomics Pub Date : 2026-01-01 Epub Date: 2026-01-07 DOI: 10.1080/17501911.2026.2613008

Taira Mayanagi, Junko Yagi, Hideki Ohmomo, Manami Akasaka, Kentaro Fukumoto, Shusaku Chiba, Shohei Komaki, Atsushi Shimizu, Takehito Yanbe, Mare Uchide, Yasuhito Yoshioka, Kaori Ogawa, Chiho Ishikawa, Shiori Minabe, Jun Ito, Kanako Ono, Nozomi Kaneko, Kenji Sobue

{"title":"Inter-individual differentially methylated region-targeted EWAS reveals epigenetic signatures of early childhood adversity.","authors":"Taira Mayanagi, Junko Yagi, Hideki Ohmomo, Manami Akasaka, Kentaro Fukumoto, Shusaku Chiba, Shohei Komaki, Atsushi Shimizu, Takehito Yanbe, Mare Uchide, Yasuhito Yoshioka, Kaori Ogawa, Chiho Ishikawa, Shiori Minabe, Jun Ito, Kanako Ono, Nozomi Kaneko, Kenji Sobue","doi":"10.1080/17501911.2026.2613008","DOIUrl":"10.1080/17501911.2026.2613008","url":null,"abstract":"Aims: Adverse childhood experiences (ACEs), especially in early life, can affect psychosocial development and increase lifelong risk for mental disorders. ACEs are also known to induce persistent epigenetic changes. This study aimed to explore ACE-associated DNA methylation signatures using an epigenome-wide association study (EWAS) targeting inter-individual differentially methylated regions (DMRs).Methods: We developed a targeted capture probe system covering ~1.3 million CpG sites within inter-individual DMRs. This system was applied to salivary DNA from drug-naïve children aged 6-12 years with exposure to multiple early-life ACEs (n = 23) or who had no ACEs (n = 21).Results: We identified 15 novel DMRs significantly associated with ACEs. A cluster of six CpG sites within an exon of the EIF4G2 gene showed consistently increased methylation in children with ACEs, with strong inter-site correlations. Enrichment analysis indicated that genes near these DMRs are involved in neurodevelopmental disorders, suggesting that early adversity may influence brain development through epigenetic mechanisms.Conclusion: Our findings suggest that early adversity may contribute to lasting epigenetic modifications in children. The identified DMRs may serve as noninvasive biomarkers for retrospective ACE assessment and provide insights into the biological embedding of early-life stress.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"89-100"},"PeriodicalIF":3.1,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826735/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145932746","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

A review of e-cigarettes and their effects on DNA methylation in human studies. 电子烟及其对人体DNA甲基化的影响研究综述。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-12-01 Epub Date: 2025-11-26 DOI: 10.1080/17501911.2025.2596077

Naila Francis Paulo de Oliveira, Juliana Ramalho Guimarães, José Maria Chagas Viana Filho

{"title":"A review of e-cigarettes and their effects on DNA methylation in human studies.","authors":"Naila Francis Paulo de Oliveira, Juliana Ramalho Guimarães, José Maria Chagas Viana Filho","doi":"10.1080/17501911.2025.2596077","DOIUrl":"10.1080/17501911.2025.2596077","url":null,"abstract":"Background: The effects of conventional cigarette (c-cig) use on DNA methylation are well established, but the impact of electronic cigarettes (e-cigs) remains unclear. Objective: This scoping review aimed to map and synthesize available evidence regarding the effects of e-cig use on DNA methylation profiles in human studies. Methods: PubMed, Lilacs, Scopus, Web of Science and Cochrane were searched using terms related to e-cigs and DNA methylation up to April 2025.Results: Seven studies were included, analyzing samples from saliva, peripheral blood, and bronchial epithelial tissue. The findings indicate that e-cig use is associated with changes in DNA methylation profiles compared to nonsmokers, with alterations observed in global methylation, specific sites, and epigenetic aging markers (GrimAge). Some methylation changes were shared with c-cig users, while others appeared unique to e-cig exposure. The heterogeneity of study designs, exposure duration, and biological samples precludes definitive conclusions regarding the magnitude and clinical relevance of these changes.Conclusion: E-cig use is associated with distinct alterations in DNA methylation in multiple human tissues, some of which are unique compared to conventional cigarettes. Further research is needed to clarify the long-term implications and potential health risks of these epigenetic changes.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1659-1668"},"PeriodicalIF":2.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826723/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145603331","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