{"doi":"10.1101/2020.09.14.20191361","title":"Saliva cell type DNA methylation reference panel for epidemiology studies in children","abstract":"Abstract Saliva is a widely used biological sample, especially in pediatric research, containing a heterogenous mixture of immune and epithelial cells. Associations of exposure or disease with saliva DNA methylation can be influenced by cell-type proportions. Here, we developed a saliva cell-type DNA methylation reference panel to estimate interindividual cell-type heterogeneity in whole saliva studies. Saliva was collected from 22 children (7-16 years) and sorted into immune and epithelial cells, using size exclusion filtration and magnetic bead sorting. DNA methylation was measured using the Illumina MethylationEPIC BeadChip. We assessed cell-type differences in DNA methylation profiles and tested for enriched biological pathways. Immune and epithelial cells differed at 164,793 (20.7%) DNA methylation sites (t-test p < 10 -8 ). Immune cell hypomethylated sites mapped to genes enriched for immune pathways (p < 3.2 × 10 -5 ). Epithelial cell hypomethylated sites were enriched for cornification (p = 5.2 × 10 -4 ), a key process for hard palette formation. Saliva immune and epithelial cells have distinct DNA methylation profiles which can drive whole saliva DNA methylation measures. A primary saliva DNA methylation reference panel, easily implemented with an R package, will allow estimates of cell proportions from whole saliva samples and improve epigenetic epidemiology studies by accounting for measurement heterogeneity by cell-type proportions.","journal":"medRxiv","year":2020,"id":130994,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.7349,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":374328,"name":"John Dou","orcid":"0000-0003-4577-8660","position":1,"is_corresponding":false},{"id":584293,"name":"Jonah Fisher","orcid":"0000-0002-8733-9175","position":2,"is_corresponding":false},{"id":509497,"name":"Jonathan Heiss","orcid":"0000-0003-1448-2509","position":3,"is_corresponding":false},{"id":316819,"name":"Vy Kim Nguyen","orcid":"0000-0002-6128-0523","position":4,"is_corresponding":false},{"id":240832,"name":"Allan C. Just","orcid":"0000-0003-4312-5957","position":5,"is_corresponding":false},{"id":14653,"name":"Jessica D. Faul","orcid":"0000-0002-6969-6478","position":6,"is_corresponding":false},{"id":278643,"name":"Erin B. Ware","orcid":"0000-0003-4731-8158","position":7,"is_corresponding":false},{"id":282955,"name":"Colter Mitchell","orcid":"0000-0001-9560-1199","position":8,"is_corresponding":false},{"id":324124,"name":"Justin A. Colacino","orcid":"0000-0002-5882-4569","position":9,"is_corresponding":false},{"id":232636,"name":"Kelly M. Bakulski","orcid":"0000-0002-9605-6337","position":10,"is_corresponding":false},{"id":471727,"name":"Lauren Y. M. Middleton","orcid":"0000-0001-9422-2912","position":0,"is_corresponding":true}],"reference_count":38,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-18T23:16:00.235845Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}