{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T14:03:10Z","timestamp":1785420190238,"version":"3.56.0"},"reference-count":70,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T00:00:00Z","timestamp":1778112000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Program Management Unit for Human Resources and Institutional Development, Research and Innovation","award":["B36G660008"],"award-info":[{"award-number":["B36G660008"]}]},{"DOI":"10.13039\/501100017170","name":"Thailand Science Research and Innovation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100017170","id-type":"DOI","asserted-by":"crossref"}]},{"id":[{"id":"https:\/\/ror.org\/000025p04","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002873","name":"Chulalongkorn University","doi-asserted-by":"crossref","award":["HEAF67370092"],"award-info":[{"award-number":["HEAF67370092"]}],"id":[{"id":"10.13039\/501100002873","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002873","name":"Chulalongkorn University","doi-asserted-by":"crossref","award":["HEA_FF_68_083_3700_006"],"award-info":[{"award-number":["HEA_FF_68_083_3700_006"]}],"id":[{"id":"10.13039\/501100002873","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002873","name":"Chulalongkorn University","doi-asserted-by":"crossref","award":["CE68_080_3700_001"],"award-info":[{"award-number":["CE68_080_3700_001"]}],"id":[{"id":"10.13039\/501100002873","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002873","name":"Chulalongkorn University","doi-asserted-by":"crossref","award":["GCUGR1125662069D"],"award-info":[{"award-number":["GCUGR1125662069D"]}],"id":[{"id":"10.13039\/501100002873","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002873","name":"Chulalongkorn University","doi-asserted-by":"crossref","award":["GCUGR1125671077D"],"award-info":[{"award-number":["GCUGR1125671077D"]}],"id":[{"id":"10.13039\/501100002873","id-type":"DOI","asserted-by":"crossref"}]},{"award":["HEAF67370092"],"award-info":[{"award-number":["HEAF67370092"]}],"id":[{"id":"https:\/\/ror.org\/028wp3y58","id-type":"ROR","asserted-by":"publisher"}]},{"award":["HEA_FF_68_083_3700_006"],"award-info":[{"award-number":["HEA_FF_68_083_3700_006"]}],"id":[{"id":"https:\/\/ror.org\/028wp3y58","id-type":"ROR","asserted-by":"publisher"}]},{"award":["CE68_080_3700_001"],"award-info":[{"award-number":["CE68_080_3700_001"]}],"id":[{"id":"https:\/\/ror.org\/028wp3y58","id-type":"ROR","asserted-by":"publisher"}]},{"award":["GCUGR1125662069D"],"award-info":[{"award-number":["GCUGR1125662069D"]}],"id":[{"id":"https:\/\/ror.org\/028wp3y58","id-type":"ROR","asserted-by":"publisher"}]},{"award":["GCUGR1125671077D"],"award-info":[{"award-number":["GCUGR1125671077D"]}],"id":[{"id":"https:\/\/ror.org\/028wp3y58","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Royal Golden Jubilee Ph.D. Program","award":["NRCT5-RGJ63001-018"],"award-info":[{"award-number":["NRCT5-RGJ63001-018"]}]},{"name":"Graduate Scholarship Program for ASEAN or Non-ASEAN Countries"},{"name":"H.M. King Bhumibol Adulyadej\u2019s 72nd Birthday Anniversary Scholarship"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder caused by the interaction between genetic and environmental influences, potentially mediated by epigenetic mechanisms such as DNA methylation. Genome-wide DNA methylation profiling was performed using the Infinium MethylationEPIC v2.0 array on peripheral blood mononuclear cells (PBMCs) from 100 children with ASD and 50 typically developing controls. Differential methylation analyses were conducted by adjusting for age, sex, and estimated blood-cell-type composition as covariates. Functional enrichment, SFARI gene-overlap analysis, and cross-cohort validation were performed. We identified 3507 differentially methylated positions (DMPs) in the ASD cohort. Functional enrichment revealed pathways involved in neuronal signaling, synaptic activity, and immune regulation, suggesting coordinated neurodevelopmental and immune processes in ASD. Stratification by clinical severity demonstrated common and unique biological characteristics between the moderate and severe ASD groups. Furthermore, DMP-associated genes significantly overlapped with high-confidence ASD risk genes from the SFARI database and established transcriptomic signatures of neurodevelopmental disorders. Comparisons with independent post mortem brain tissue and peripheral blood datasets revealed partial overlap and directional concordance. However, the strength of concordance varied across datasets and was limited in the most directly comparable peripheral blood cohort. Our findings suggested that DNA methylation profiling of PBMCs provided peripheral epigenetic signatures and candidate loci for further validation in larger independent cohorts.<\/jats:p>","DOI":"10.3390\/ijms27104161","type":"journal-article","created":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T12:15:07Z","timestamp":1778156107000},"page":"4161","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genome-Wide DNA Methylation Profiling of Peripheral Blood Mononuclear Cells Reveals Epigenetic Signatures in Autism Spectrum Disorder"],"prefix":"10.3390","volume":"27","author":[{"given":"Thanit","family":"Saeliw","sequence":"first","affiliation":[{"name":"Chulalongkorn Autism Research and Innovation Center of Excellence (ChulaACE), Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok 10330, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasana","family":"Yuwattana","sequence":"additional","affiliation":[{"name":"The Ph.D. Program in Clinical Biochemistry and Molecular Medicine, Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok 10330, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chayanit","family":"Poolcharoen","sequence":"additional","affiliation":[{"name":"The M.Sc. Program in Clinical Biochemistry and Molecular Medicine, Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok 10330, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlieke Lisanne van","family":"Erp","sequence":"additional","affiliation":[{"name":"The Ph.D. Program in Clinical Biochemistry and Molecular Medicine, Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok 10330, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Songphon","family":"Kanlayaprasit","sequence":"additional","affiliation":[{"name":"Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand"},{"name":"Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok 10330, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natchaya","family":"Vanwong","sequence":"additional","affiliation":[{"name":"Chulalongkorn Autism Research and Innovation Center of Excellence (ChulaACE), Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok 10330, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3357-0777","authenticated-orcid":false,"given":"Valerie W.","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC 20037, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6038-6740","authenticated-orcid":false,"given":"Pon","family":"Trairatvorakul","sequence":"additional","affiliation":[{"name":"Center of Excellence for Maximizing Children\u2019s Developmental Potential, Division of Growth and Development, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weerasak","family":"Chonchaiya","sequence":"additional","affiliation":[{"name":"Center of Excellence for Maximizing Children\u2019s Developmental Potential, Division of Growth and Development, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4518-9399","authenticated-orcid":false,"given":"Tewarit","family":"Sarachana","sequence":"additional","affiliation":[{"name":"Chulalongkorn Autism Research and Innovation Center of Excellence (ChulaACE), Department of Clinical Chemistry, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok 10330, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental Disorders, American Psychiatric Association.","DOI":"10.1176\/appi.books.9780890425596"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1007\/s00018-018-2988-4","article-title":"The contribution of environmental exposure to the etiology of autism spectrum disorder","volume":"76","author":"Bolte","year":"2019","journal-title":"Cell. Mol. Life Sci."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.ntt.2012.12.001","article-title":"Neuronal connectivity as a convergent target of gene \u00d7 environment interactions that confer risk for Autism Spectrum Disorders","volume":"36","author":"Stamou","year":"2013","journal-title":"Neurotoxicol. Teratol."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Tordjman, S., Somogyi, E., Coulon, N., Kermarrec, S., Cohen, D., Bronsard, G., Bonnot, O., Weismann-Arcache, C., Botbol, M., and Lauth, B. (2014). Gene \u00d7 Environment interactions in autism spectrum disorders: Role of epigenetic mechanisms. Front. Psychiatry, 5.","DOI":"10.3389\/fpsyt.2014.00053"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"27","DOI":"10.4103\/1735-1995.200272","article-title":"Environmental factors influencing the risk of autism","volume":"22","author":"Karimi","year":"2017","journal-title":"J. Res. Med. Sci."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1038\/s41380-021-01142-w","article-title":"Environmental exposures associated with elevated risk for autism spectrum disorder may augment the burden of deleterious de novo mutations among probands","volume":"27","author":"Pugsley","year":"2022","journal-title":"Mol. Psychiatry"},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Sukjamnong, S., Saeliw, T., Panjabud, P., Thongkorn, S., Kanlayaprasit, S., Lertpeerapan, P., Hu, V.W., and Sarachana, T. (2026). Prenatal bisphenol A exposure perturbs sex-dependent transcriptomic regionalization of autism-associated genes in the developing brain. Biology Direct, Springer.","DOI":"10.1186\/s13062-026-00803-6"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1002\/aur.73","article-title":"Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: Evidence for circadian rhythm dysfunction in severe autism","volume":"2","author":"Hu","year":"2009","journal-title":"Autism Res."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Yuwattana, W., Poolcharoen, C., Saeliw, T., van Erp, M.L., Kanlayaprasit, S., Vanwong, N., Hu, V.W., Trairatvorakul, P., Chonchaiya, W., and Le Cao, K.A. (2026). Integrated transcriptomic and clinical analysis of autism spectrum disorder reveals structured heterogeneity and links Methyl-CpG Binding Domain Protein 2 expression with symptom severity. Psychiatry Clin. Neurosci.","DOI":"10.1111\/pcn.70065"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"21889","DOI":"10.1038\/s41598-024-72334-x","article-title":"Investigation of chimeric transcripts derived from LINE-1 and Alu retrotransposons in cerebellar tissues of individuals with autism spectrum disorder (ASD)","volume":"14","author":"Saeliw","year":"2024","journal-title":"Sci. Rep."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/gm144","article-title":"Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines","volume":"2","author":"Sarachana","year":"2010","journal-title":"Genome Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1186\/s13293-025-00744-1","article-title":"Sex-dependent epigenetic disruption of YY1 binding by prenatal BPA exposure downregulates Matr3 and alters Agap1 splicing in the offspring hippocampus","volume":"16","author":"Lertpeerapan","year":"2025","journal-title":"Biol. Sex Differ."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"25996","DOI":"10.1038\/s41598-025-09909-9","article-title":"Prenatal exposure to bisphenol A disrupts RNA splicing in the prefrontal cortex and promotes behaviors related to autism in offspring","volume":"15","author":"Panjabud","year":"2025","journal-title":"Sci. Rep."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"100237","DOI":"10.1016\/j.mocell.2025.100237","article-title":"Dysregulated RNA-binding proteins and alternative splicing: Emerging roles in autism spectrum disorder","volume":"48","author":"Jeong","year":"2025","journal-title":"Mol. Cells"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/s11689-025-09637-1","article-title":"An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits","volume":"17","author":"Howerton","year":"2025","journal-title":"J. Neurodev. Disord."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/s41398-025-03566-2","article-title":"Dissecting the heterogeneity of autism spectrum disorder with sensory behavior, brain, and epigenetic factors","volume":"15","author":"Cheong","year":"2025","journal-title":"Transl. Psychiatry"},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Saeliw, T., Kanlayaprasit, S., Thongkorn, S., Songsritaya, K., Sanannam, B., Sae-Lee, C., Jindatip, D., Hu, V.W., and Sarachana, T. (2023). Epigenetic Gene-Regulatory Loci in Alu Elements Associated with Autism Susceptibility in the Prefrontal Cortex of ASD. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24087518"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Garcia-Ortiz, M.V., de la Torre-Aguilar, M.J., Morales-Ruiz, T., Gomez-Fernandez, A., Flores-Rojas, K., Gil-Campos, M., Martin-Borreguero, P., Ariza, R.R., Roldan-Arjona, T., and Perez-Navero, J.L. (2021). Analysis of Global and Local DNA Methylation Patterns in Blood Samples of Patients with Autism Spectrum Disorder. Front. Pediatr., 9.","DOI":"10.3389\/fped.2021.685310"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1146\/annurev-med-120417-091431","article-title":"DNA Methylation and Susceptibility to Autism Spectrum Disorder","volume":"70","author":"Tremblay","year":"2019","journal-title":"Annu. Rev. Med."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Gholamalizadeh, H., Amiri-Shahri, M., Rasouli, F., Ansari, A., Baradaran Rahimi, V., and Reza Askari, V. (2024). DNA Methylation in Autism Spectrum Disorders: Biomarker or Pharmacological Target?. Brain Sci., 14.","DOI":"10.3390\/brainsci14080737"},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Stoccoro, A., Conti, E., Scaffei, E., Calderoni, S., Coppede, F., Migliore, L., and Battini, R. (2023). DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24119138"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1080\/15592294.2015.1100786","article-title":"Interindividual methylomic variation across blood, cortex, and cerebellum: Implications for epigenetic studies of neurological and neuropsychiatric phenotypes","volume":"10","author":"Hannon","year":"2015","journal-title":"Epigenetics"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1002\/ajmg.b.32150","article-title":"On the outside, looking in: A review and evaluation of the comparability of blood and brain \u201c-omes\u201d","volume":"162B","author":"Tylee","year":"2013","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Jack, A., Connelly, J.J., and Morris, J.P. (2012). DNA methylation of the oxytocin receptor gene predicts neural response to ambiguous social stimuli. Front. Hum. Neurosci., 6.","DOI":"10.3389\/fnhum.2012.00280"},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Morales-Marin, M.E., Castro Martinez, X.H., Centeno Cruz, F., Barajas-Olmos, F., Nafate Lopez, O., Gomez Cotero, A.G., Orozco, L., and Nicolini Sanchez, H. (2023). Differential DNA Methylation from Autistic Children Enriches Evidence for Genes Associated with ASD and New Candidate Genes. Brain Sci., 13.","DOI":"10.3390\/brainsci13101420"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/s12264-017-0100-y","article-title":"An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options","volume":"33","author":"Masi","year":"2017","journal-title":"Neurosci. Bull."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Waterhouse, L. (2022). Heterogeneity thwarts autism explanatory power: A proposal for endophenotypes. Front. Psychiatry, 13.","DOI":"10.3389\/fpsyt.2022.947653"},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Corley, M.J., Vargas-Maya, N., Pang, A.P.S., Lum-Jones, A., Li, D., Khadka, V., Sultana, R., Blanchard, D.C., and Maunakea, A.K. (2019). Epigenetic Delay in the Neurodevelopmental Trajectory of DNA Methylation States in Autism Spectrum Disorders. Front. Genet., 10.","DOI":"10.3389\/fgene.2019.00907"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"e855","DOI":"10.1038\/tp.2016.120","article-title":"Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders","volume":"6","author":"Homs","year":"2016","journal-title":"Transl. Psychiatry"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"13662","DOI":"10.1038\/s41598-019-50250-9","article-title":"An epigenetic biomarker for adult high-functioning autism spectrum disorder","volume":"9","author":"Kimura","year":"2019","journal-title":"Sci. Rep."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"e433","DOI":"10.1038\/tp.2014.70","article-title":"DNA methylation analysis of the autistic brain reveals multiple dysregulated biological pathways","volume":"4","author":"Nardone","year":"2014","journal-title":"Transl. Psychiatry"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/s41398-023-02407-4","article-title":"Candidate biomarkers from the integration of methylation and gene expression in discordant autistic sibling pairs","volume":"13","author":"Perini","year":"2023","journal-title":"Transl. Psychiatry"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1186\/s13148-019-0684-3","article-title":"Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants","volume":"11","author":"Siu","year":"2019","journal-title":"Clin. Epigenet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1093\/hmg\/ddz052","article-title":"Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue","volume":"28","author":"Wong","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"13970","DOI":"10.1038\/s41598-022-18232-6","article-title":"LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes","volume":"12","author":"Saeliw","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1093\/schbul\/sbv074","article-title":"Correspondence of DNA Methylation Between Blood and Brain Tissue and Its Application to Schizophrenia Research","volume":"42","author":"Walton","year":"2016","journal-title":"Schizophr. Bull."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/nrn3978","article-title":"Immune mediators in the brain and peripheral tissues in autism spectrum disorder","volume":"16","author":"Estes","year":"2015","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.neuron.2009.09.001","article-title":"Immune proteins in brain development and synaptic plasticity","volume":"64","author":"Boulanger","year":"2009","journal-title":"Neuron"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.bbi.2010.08.003","article-title":"Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome","volume":"25","author":"Ashwood","year":"2011","journal-title":"Brain Behav. Immun."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.jneuroim.2008.12.002","article-title":"Elevated immune response in the brain of autistic patients","volume":"207","author":"Li","year":"2009","journal-title":"J. Neuroimmunol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"82390","DOI":"10.18632\/oncotarget.19326","article-title":"Immunological cytokine profiling identifies TNF-alpha as a key molecule dysregulated in autistic children","volume":"8","author":"Xie","year":"2017","journal-title":"Oncotarget"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/nn.3318","article-title":"Microglia emerge from erythromyeloid precursors via Pu.1- and Irf8-dependent pathways","volume":"16","author":"Kierdorf","year":"2013","journal-title":"Nat. Neurosci."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1038\/nrm3949","article-title":"The selection and function of cell type-specific enhancers","volume":"16","author":"Heinz","year":"2015","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1002\/glia.22486","article-title":"The transcription factor PU.1 is critical for viability and function of human brain microglia","volume":"61","author":"Smith","year":"2013","journal-title":"Glia"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1146\/annurev.immunol.24.021605.090737","article-title":"Transforming growth factor-beta regulation of immune responses","volume":"24","author":"Li","year":"2006","journal-title":"Annu. Rev. Immunol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1038\/nrm3434","article-title":"TGFbeta signalling in context","volume":"13","author":"Massague","year":"2012","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_47","first-page":"57","article-title":"Is Serum TGF-beta1 and TGF-beta2 levels Correlated to Children with Autism Intensity?","volume":"15","author":"Yousefi","year":"2021","journal-title":"Iran. J. Child. Neurol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"9873","DOI":"10.1523\/JNEUROSCI.23-30-09873.2003","article-title":"R-cadherin is a Pax6-regulated, growth-promoting cue for pioneer axons","volume":"23","author":"Andrews","year":"2003","journal-title":"J. Neurosci."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.tins.2009.04.003","article-title":"The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders","volume":"32","author":"Betancur","year":"2009","journal-title":"Trends Neurosci."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1002\/dneu.22046","article-title":"The major histocompatibility complex and autism spectrum disorder","volume":"72","author":"Needleman","year":"2012","journal-title":"Dev. Neurobiol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1002\/aur.2310","article-title":"DNA Methylation Associated with Mitochondrial Dysfunction in a South African Autism Spectrum Disorder Cohort","volume":"13","author":"Stathopoulos","year":"2020","journal-title":"Autism Res."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1177\/1362361320971085","article-title":"Altered DNA methylation in a severe subtype of idiopathic autism: Evidence for sex differences in affected metabolic pathways","volume":"25","author":"Hu","year":"2021","journal-title":"Autism"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s13229-018-0213-9","article-title":"Integrated genome-wide Alu methylation and transcriptome profiling analyses reveal novel epigenetic regulatory networks associated with autism spectrum disorder","volume":"9","author":"Saeliw","year":"2018","journal-title":"Mol. Autism"},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Tangsuwansri, C., Saeliw, T., Thongkorn, S., Chonchaiya, W., Suphapeetiporn, K., Mutirangura, A., Tencomnao, T., Hu, V.W., and Sarachana, T. (2018). Investigation of epigenetic regulatory networks associated with autism spectrum disorder (ASD) by integrated global LINE-1 methylation and gene expression profiling analyses. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0201071"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1038\/s41380-022-01822-1","article-title":"Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis","volume":"28","author":"Jang","year":"2023","journal-title":"Mol. Psychiatry"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.molmed.2012.01.003","article-title":"What does CNTNAP2 reveal about autism spectrum disorder?","volume":"18","author":"Penagarikano","year":"2012","journal-title":"Trends Mol. Med."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.1038\/s41380-020-0667-y","article-title":"Nuclear receptor corepressors in intellectual disability and autism","volume":"25","author":"Kong","year":"2020","journal-title":"Mol. Psychiatry"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s13229-018-0224-6","article-title":"Case-control meta-analysis of blood DNA methylation and autism spectrum disorder","volume":"9","author":"Andrews","year":"2018","journal-title":"Mol. Autism"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s13073-018-0527-4","article-title":"Elevated polygenic burden for autism is associated with differential DNA methylation at birth","volume":"10","author":"Hannon","year":"2018","journal-title":"Genome Med."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1093\/bioinformatics\/btu049","article-title":"Minfi: A flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays","volume":"30","author":"Aryee","year":"2014","journal-title":"Bioinformatics"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"e90","DOI":"10.1093\/nar\/gkt090","article-title":"Low-level processing of Illumina Infinium DNA Methylation BeadArrays","volume":"41","author":"Triche","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1093\/bioinformatics\/bts034","article-title":"The sva package for removing batch effects and other unwanted variation in high-throughput experiments","volume":"28","author":"Leek","year":"2012","journal-title":"Bioinformatics"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1038\/s41592-018-0213-x","article-title":"Identification of differentially methylated cell types in epigenome-wide association studies","volume":"15","author":"Zheng","year":"2018","journal-title":"Nat. Methods"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1093\/nar\/gkv007","article-title":"limma powers differential expression analyses for RNA-sequencing and microarray studies","volume":"43","author":"Ritchie","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"ref_65","doi-asserted-by":"crossref","unstructured":"Wickham, H. (2016). ggplot2: Elegant Graphics for Data Analysis, Springer Publishing Company, Incorporated.","DOI":"10.1007\/978-3-319-24277-4_9"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/1756-8935-8-6","article-title":"De Novo identification of differentially methylated regions in the human genome","volume":"8","author":"Peters","year":"2015","journal-title":"Epigenet. Chromatin"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"e90","DOI":"10.1002\/cpz1.90","article-title":"Gene Set Knowledge Discovery with Enrichr","volume":"1","author":"Xie","year":"2021","journal-title":"Curr. Protoc."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"W212","DOI":"10.1093\/nar\/gkz446","article-title":"ChEA3: Transcription factor enrichment analysis by orthogonal omics integration","volume":"47","author":"Keenan","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1242\/dmm.005439","article-title":"SFARI Gene: An evolving database for the autism research community","volume":"3","author":"Packer","year":"2010","journal-title":"Dis. Model. Mech."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1109\/MCSE.2007.55","article-title":"Matplotlib: A 2D Graphics Environment","volume":"9","author":"Hunter","year":"2007","journal-title":"Comput. Sci. Eng."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/27\/10\/4161\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T04:36:09Z","timestamp":1778301369000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/27\/10\/4161"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,7]]},"references-count":70,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2026,5]]}},"alternative-id":["ijms27104161"],"URL":"https:\/\/doi.org\/10.3390\/ijms27104161","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,7]]}}}