{"doi":"10.1002/alz.12254","title":"Integrative functional genomic analysis of intron retention in human and mouse brain with Alzheimer's disease","abstract":"Intron retention (IR) has been implicated in the pathogenesis of complex diseases such as cancers; its association with Alzheimer's disease (AD) remains unexplored. We performed genome-wide analysis of IR through integrating genetic, transcriptomic, and proteomic data of AD subjects and mouse models from the Accelerating Medicines Partnership-Alzheimer's Disease project. We identified 4535 and 4086 IR events in 2173 human and 1736 mouse genes, respectively. Quantitation of IR enabled the identification of differentially expressed genes that conventional exon-level approaches did not reveal. There were significant correlations of intron expression within innate immune genes, like HMBOX1, with AD in humans. Peptides with a high probability of translation from intron-retained mRNAs were identified using mass spectrometry. Further, we established AD-specific intron expression Quantitative Trait Loci, and identified splicing-related genes that may regulate IR. Our analysis provides a novel resource for the search for new AD biomarkers and pathological mechanisms.","journal":"Alzheimer s & Dementia","year":2021,"id":163232,"datarank":1.3765258943459138,"base_score":3.7612001156935624,"endowment":3.7612001156935624,"self_citation_contribution":0.5641800173540344,"citation_network_contribution":0.8123458769918792,"self_endowment_contribution":0.5641800173540344,"citer_contribution":0.8123458769918792,"corpus_percentile":84.96944379979887,"corpus_rank":1944,"citation_count":42,"citer_count":32,"citers_with_citation_signal":26,"citers_with_endowment":26,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.6203,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":232914,"name":"Cory C. Funk","orcid":"0000-0002-5229-9011","position":1,"is_corresponding":false},{"id":380177,"name":"Karen N. McFarland","orcid":"0000-0002-9952-8678","position":2,"is_corresponding":false},{"id":107078,"name":"Eric B. Dammer","orcid":"0000-0003-2947-7606","position":3,"is_corresponding":false},{"id":232915,"name":"Mariet Allen","orcid":"0000-0002-2685-427X","position":4,"is_corresponding":false},{"id":308849,"name":"Minerva M. Carrasquillo","orcid":"0000-0002-3231-9134","position":5,"is_corresponding":false},{"id":232925,"name":"Yona Levites","orcid":"0000-0001-6925-4525","position":6,"is_corresponding":false},{"id":232924,"name":"Paramita Chakrabarty","orcid":"0000-0002-6226-3776","position":7,"is_corresponding":false},{"id":92337,"name":"Jeremy D. Burgess","orcid":"0000-0001-9454-3070","position":8,"is_corresponding":false},{"id":230880,"name":"Xue Wang","orcid":"0000-0003-1964-4124","position":9,"is_corresponding":false},{"id":54753,"name":"Dennis W. Dickson","orcid":"0000-0001-7189-7917","position":10,"is_corresponding":false},{"id":21539,"name":"Nicholas T. Seyfried","orcid":"0000-0002-4507-624X","position":11,"is_corresponding":false},{"id":21522,"name":"Duc M. Duong","orcid":"0000-0001-5880-1888","position":12,"is_corresponding":false},{"id":68013,"name":"James J. Lah","orcid":null,"position":13,"is_corresponding":false},{"id":775,"name":"Steven G. Younkin","orcid":null,"position":14,"is_corresponding":false},{"id":68010,"name":"Allan I. Levey","orcid":"0000-0002-3153-502X","position":15,"is_corresponding":false},{"id":32989,"name":"Gilbert S. Omenn","orcid":"0000-0002-8976-6074","position":16,"is_corresponding":false},{"id":776,"name":"Nilüfer Ertekin‐Taner","orcid":"0000-0003-4436-8889","position":17,"is_corresponding":false},{"id":107091,"name":"Todd E. Golde","orcid":"0000-0003-1867-7071","position":18,"is_corresponding":false},{"id":33002,"name":"Nathan D. Price","orcid":"0000-0002-4157-0267","position":19,"is_corresponding":false},{"id":27549,"name":"Hong‐Dong Li","orcid":null,"position":0,"is_corresponding":true}],"reference_count":72,"raw_metadata":null,"created_at":"2026-07-18T23:45:17.971865Z","pmid":"33480174","pmcid":"PMC8248162","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":[]}