{"doi":"10.1002/dad2.12008","title":"Genetic and regulatory architecture of Alzheimer's disease in the <i>APOE</i> region","abstract":"INTRODUCTION: ) ε2 and ε4 alleles encoded by rs7412 and rs429358 polymorphisms, respectively, are landmark contra and pro \"risk\" factors for Alzheimer's disease (AD). METHODS: We examined differences in linkage disequilibrium (LD) structures between (1) AD-affected and unaffected subjects and (2) older AD-unaffected and younger subjects in the 19q13.3 region harboring rs7412 and rs429358. RESULTS: AD is associated with sex-nonspecific heterogeneous patterns of decreased and increased LD of rs7412 and rs429358, respectively, with other polymorphisms from five genes in this region in AD-affected subjects. The LD patterns in older AD-unaffected subjects resembled those in younger individuals. Polarization of the ε4- and ε2 allele-related heterogeneous LD clusters differentiated cell types and implicated specific tissues in AD pathogenesis. DISCUSSION: Protection and predisposition to AD is characterized by an interplay of rs7412 and rs429358, with multiple polymorphisms in the 19q13.3 region in a tissue-specific manner, which is not driven by common evolutionary forces.","journal":"Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring","year":2020,"id":97589,"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":32,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9623,"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":482708,"name":"Leonardo Shu","orcid":"0000-0002-6646-0881","position":1,"is_corresponding":false},{"id":74155,"name":"Yury Loika","orcid":"0000-0001-6730-7320","position":2,"is_corresponding":false},{"id":18245,"name":"Liang He","orcid":"0000-0001-6711-2021","position":3,"is_corresponding":false},{"id":406168,"name":"Alireza Nazarian","orcid":"0000-0001-5810-6834","position":4,"is_corresponding":false},{"id":280707,"name":"Konstantin G. Arbeev","orcid":"0000-0002-4195-7832","position":5,"is_corresponding":false},{"id":264268,"name":"Svetlana Ukraintseva","orcid":"0000-0002-0079-5494","position":6,"is_corresponding":false},{"id":264271,"name":"Anatoliy I. Yashin","orcid":"0000-0003-4262-8894","position":7,"is_corresponding":false},{"id":483816,"name":"Irina Culminskaya","orcid":null,"position":8,"is_corresponding":false},{"id":49162,"name":"Alexander M. Kulminski","orcid":"0000-0002-0205-8228","position":0,"is_corresponding":true}],"reference_count":49,"raw_metadata":null,"created_at":"2026-07-18T22:36:02.818637Z","pmid":"32211503","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":[]}