{"doi":"10.1101/2023.02.06.23285383","title":"Contributions of rare and common variation to early-onset and atypical dementia risk","abstract":"Abstract We collected and analyzed genomic sequencing data from individuals with clinician- diagnosed early-onset or atypical dementia. Thirty-two patients were previously described, with sixty-eight newly described in this report. Of those sixty-eight, sixty-two patients reported Caucasian, non-Hispanic ethnicity and six reported as African American, non-Hispanic. Fifty-three percent of patients had a returnable variant. Five patients harbored a pathogenic variant as defined by the American College of Medical Genetics criteria for pathogenicity. A polygenic risk score was calculated for Alzheimer’s patients in the total cohort and compared to the scores of a late-onset Alzheimer’s cohort and a control set. Patients with early-onset Alzheimer’s had higher non- APOE polygenic risk scores than patients with late onset Alzheimer’s, supporting the conclusion that both rare and common genetic variation associate with early-onset neurodegenerative disease risk.","journal":"medRxiv","year":2023,"id":402927,"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":0.9004,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1067037,"name":"Jared W. Taylor","orcid":null,"position":1,"is_corresponding":false},{"id":302936,"name":"J. Nicholas Cochran","orcid":"0000-0002-9852-5504","position":2,"is_corresponding":false},{"id":426797,"name":"James M.J. Lawlor","orcid":"0000-0003-1735-1766","position":3,"is_corresponding":false},{"id":1160471,"name":"Belle A. Moyers","orcid":"0009-0009-4381-7540","position":4,"is_corresponding":false},{"id":306552,"name":"Michelle D. Amaral","orcid":null,"position":5,"is_corresponding":false},{"id":1169249,"name":"Zachary T Bonnstetter","orcid":"0000-0003-0622-3275","position":6,"is_corresponding":false},{"id":66560,"name":"Princess Carter","orcid":null,"position":7,"is_corresponding":false},{"id":66561,"name":"Veronika Solomon","orcid":null,"position":8,"is_corresponding":false},{"id":19951,"name":"R Myers","orcid":"0000-0001-9701-676X","position":9,"is_corresponding":false},{"id":688943,"name":"Marissa Natelson Love","orcid":"0000-0002-7537-3587","position":10,"is_corresponding":false},{"id":463442,"name":"David Geldmacher","orcid":"0000-0003-2958-1876","position":11,"is_corresponding":false},{"id":20025,"name":"Sara J. Cooper","orcid":"0000-0002-9627-0309","position":12,"is_corresponding":false},{"id":246148,"name":"Erik D. Roberson","orcid":"0000-0002-1810-9763","position":13,"is_corresponding":false},{"id":686570,"name":"Carter Wright","orcid":"0000-0001-7307-8907","position":0,"is_corresponding":true}],"reference_count":61,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T01:20:32.588152Z","pmid":"36798301","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":[]}