<HashMap><database>biostudies-arrayexpress</database><scores/><additional><submitter>Domenico Palumbo</submitter><organism>Homo sapiens</organism><software>R</software><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/E-MTAB-14823</full_dataset_link><description>Using the Infinium Human DNA Methylation EPIC BeadChip array (850 K), we analyzed genome-wide DNA methylation patterns in peripheral blood leukocytes collected from 10 female patients with anorexia  with primary (n= 4) or secondary (n= 6) amenorrhea and 13 healthy pubertal girls matched by age (E-MTAB-13950).</description><repository>biostudies-arrayexpress</repository><sample_protocol>Labeling - Bisulfite converted DNA (250 ng) was used for analysis of whole-genome methylation using the MethylationEPIC BeadChip (Illumina, San Diego, CA, USA).</sample_protocol><sample_protocol>Hybridization - Bisulfite converted DNA was whole-genome amplified for 20 h followed by end-point fragmentation. Fragmented DNA was precipitated, denatured and hybridized to the BeadChips for 20 h at 48 °C.</sample_protocol><sample_protocol>Scaning - The BeadChips were washed and the hybridized primers were extended and labeled before scanning the BeadChips using the Illumina iScan system.</sample_protocol><sample_protocol>Sample Collection - All blood samples were drawn at 8:00 a.m. from an antecubital vein, clotted, centrifuged, and serum was stored at −20 °C until analyses were performed.</sample_protocol><sample_protocol>Nucleic Acid Extraction - Genomic DNA was extracted from peripheral blood leukocytes using standard procedures.</sample_protocol><figure_sub>MIAME Score</figure_sub><figure_sub>Raw Data</figure_sub><figure_sub>Organization</figure_sub><figure_sub>Assays and Data</figure_sub><figure_sub>Processed Data</figure_sub><figure_sub>MAGE-TAB Files</figure_sub><figure_sub>Array Designs</figure_sub><data_protocol>Data Transformation - CpGs beta values were obtained using ChAMP on R (v. 4.2.0).</data_protocol><omics_type>Metabolomics</omics_type><omics_type>Unknown</omics_type><omics_type>Transcriptomics</omics_type><omics_type>Genomics</omics_type><omics_type>Proteomics</omics_type><instrument_platform>Dell PRECISION T7500</instrument_platform><instrument_platform>Illumina iScan</instrument_platform><instrument_platform>MethylationEPIC BeadChip (Illumina, San Diego, CA, USA)</instrument_platform><pubmed_abstract>PURPOSE: Anorexia nervosa (AN) is a severe eating disorder with high morbidity that typically arises during adolescence. While genetic predisposition contributes to its development, emerging evidence highlights the role of environmental stressors and epigenetic mechanisms—particularly DNA methylation—in mediating these effects. This study aimed to investigate genome-wide DNA methylation alterations in young female adolescents with AN and functional hypogonadotropic hypogonadism, compared to healthy pubertal controls, to explore in particular potential epigenetic biomarkers of metabolic dysfunction and pubertal delay. METHODS: Peripheral blood DNA was extracted from 10 young adolescent girls with AN and 11 age-matched healthy controls. Genome-wide DNA methylation analysis was performed using the Infinium MethylationEPIC BeadChip (850 K) array, which interrogates over 850,000 CpG sites. Differentially methylated regions (DMRs) and CpG sites were identified, followed by functional annotation. Ingenuity Pathway Analysis (IPA) was conducted to investigate the biological significance of the methylation changes. RESULTS: A total of 87 DMRs were identified, with 69% showing hypomethylation in the AN group. These included genes such as CLU and MKRN3, involved in hypothalamic regulation and pubertal timing. Additionally, 2072 differentially methylated CpG sites were found, affecting genes linked to metabolism (e.g., LEPR, NR1H3) and puberty (e.g., GHR, DLK1). Ninety-two genes encoding zinc-finger proteins, including MKRN3, showed altered methylation. IPA revealed enrichment in pathways related to leptin, sirtuin, estrogen, and GnRH signaling. CONCLUSION: Young female adolescents with AN exhibited distinct methylation profiles, primarily hypomethylation, affecting genes involved in energy homeostasis and pubertal development. These epigenetic alterations may represent biomarkers of metabolic dysfunction and pubertal delay in AN.</pubmed_abstract><study_type>methylation profiling by array</study_type><species>Homo sapiens</species><pubmed_title>DNA methylation changes in young female adolescents with anorexia nervosa : focus on puberty related genes</pubmed_title><pubmed_authors>Stefania Palumbo, Domenico Palumbo, Grazia Cirillo, Francesca Aiello, Giuseppina, Rosaria Umano, Maria Gloria Gleijeses, Emanuele Miraglia del Giudice, Marco Carotenuto, Filomena Salerno, Anna Grandone</pubmed_authors><pubmed_authors>Domenico Palumbo</pubmed_authors></additional><is_claimable>false</is_claimable><name>DNA Methylation profiles in girls with anorexia nervosa and amenorrhea: a pilot study</name><description>Using the Infinium Human DNA Methylation EPIC BeadChip array (850 K), we analyzed genome-wide DNA methylation patterns in peripheral blood leukocytes collected from 10 female patients with anorexia  with primary (n= 4) or secondary (n= 6) amenorrhea and 13 healthy pubertal girls matched by age (E-MTAB-13950).</description><dates><release>2026-02-23T00:00:00Z</release><modification>2026-05-27T14:02:29.652Z</modification><creation>2025-02-10T12:26:59.604Z</creation></dates><accession>E-MTAB-14823</accession><cross_references><EFO>EFO_0002944</EFO><EFO>EFO_0003814</EFO><EFO>EFO_0003813</EFO><EFO>EFO_0002759</EFO><EFO>EFO_0005518</EFO><EFO>EFO_0003816</EFO><EFO>EFO_0003815</EFO><doi>10.1007/s40618-026-02830-6</doi></cross_references></HashMap>