{"doi":"10.1002/alz.14348","title":"Genome‐wide transcriptome analysis of Aβ deposition on PET in a Korean cohort","abstract":"INTRODUCTION: Despite the recognized importance of including ethnic diversity in Alzheimer's disease (AD) research, substantial knowledge gaps remain, particularly in Asian populations. METHODS: RNA sequencing was performed on blood samples from the Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer's Disease (KBASE) to perform differential gene expression (DGE), gene co-expression network, gene-set enrichment, and machine learning analyses for amyloid beta (Aβ) deposition on positron emission tomography. RESULTS: DGE analysis identified 265 dysregulated genes associated with Aβ deposition and replicated three AD-associated genes in an independent Korean cohort. Network analysis identified two modules related to pathways including a natural killer (NK) cell-mediated immunity. Machine learning analysis showed the classification of Aβ positivity improved with the inclusion of gene expression data. DISCUSSION: Our results in a Korean population suggest Aβ deposition-associated genes are enriched in NK cell-mediated immunity, providing a better understanding of AD molecular mechanisms and yielding potential diagnostic and therapeutic strategies. HIGHLIGHTS: Dysregulated genes were associated with amyloid beta (Aβ) deposition on positron emission tomography in a Korean cohort. Dysregulated genes in Alzheimer's disease were replicated in an independent Korean cohort. Gene network modules were associated with Aβ deposition. Natural killer (NK) cell proportion in blood was associated with Aβ deposition. Dysregulated genes were related to a NK cell-mediated immunity.","journal":"Alzheimer s & Dementia","year":2024,"id":472381,"datarank":0.1875679517238236,"base_score":1.0986122886681096,"endowment":1.0986122886681096,"self_citation_contribution":0.16479184330021646,"citation_network_contribution":0.02277610842360715,"self_endowment_contribution":0.16479184330021646,"citer_contribution":0.02277610842360715,"corpus_percentile":34.238415719037675,"corpus_rank":8501,"citation_count":2,"citer_count":2,"citers_with_citation_signal":1,"citers_with_endowment":1,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.7213,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":4.1667,"fair_percentile":4.891470498318557,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1307880,"name":"Jiyun Hwang","orcid":null,"position":1,"is_corresponding":false},{"id":620207,"name":"Shiwei Liu","orcid":"0000-0002-6766-7518","position":2,"is_corresponding":false},{"id":1219729,"name":"Soumilee Chaudhuri","orcid":"0000-0002-8488-6114","position":3,"is_corresponding":false},{"id":1307457,"name":"Sang Won Han","orcid":"0000-0002-9503-1883","position":4,"is_corresponding":false},{"id":445996,"name":"Dahyun Yi","orcid":"0000-0002-0860-0946","position":5,"is_corresponding":false},{"id":694162,"name":"Min Soo Byun","orcid":"0000-0003-3159-4510","position":6,"is_corresponding":false},{"id":1220247,"name":"Yen‐Ning Huang","orcid":null,"position":7,"is_corresponding":false},{"id":1149143,"name":"Thea Rosewood","orcid":"0000-0001-7025-0222","position":8,"is_corresponding":false},{"id":928898,"name":"Gijung Jung","orcid":"0000-0001-5952-3373","position":9,"is_corresponding":false},{"id":1307458,"name":"Min-Jeong Kim","orcid":"0000-0002-8709-1827","position":10,"is_corresponding":false},{"id":1307459,"name":"Hyejin Ahn","orcid":"0000-0002-5759-8969","position":11,"is_corresponding":false},{"id":376463,"name":"Jun‐Young Lee","orcid":"0000-0002-5893-3124","position":12,"is_corresponding":false},{"id":1262889,"name":"Yoon‐Keun Kim","orcid":"0000-0001-7610-7654","position":13,"is_corresponding":false},{"id":867211,"name":"Minyoung Cho","orcid":"0009-0000-9505-0710","position":14,"is_corresponding":false},{"id":789797,"name":"Paula J. Bice","orcid":"0000-0001-5357-9966","position":15,"is_corresponding":false},{"id":66400,"name":"Hannah Craft","orcid":null,"position":16,"is_corresponding":false},{"id":53156,"name":"Shannon L. Risacher","orcid":"0000-0002-3304-7943","position":17,"is_corresponding":false},{"id":29086,"name":"Hongyu Gao","orcid":"0000-0001-8633-3604","position":18,"is_corresponding":false},{"id":775026,"name":"Yunlong Liu","orcid":"0000-0002-0185-9293","position":19,"is_corresponding":false},{"id":497867,"name":"SangYun Kim","orcid":"0000-0002-9101-5704","position":20,"is_corresponding":false},{"id":497866,"name":"Young Ho Park","orcid":"0000-0002-2756-1786","position":21,"is_corresponding":false},{"id":120271,"name":"Dong Young Lee","orcid":null,"position":22,"is_corresponding":false},{"id":27595,"name":"Andrew J. Saykin","orcid":"0000-0002-1376-8532","position":23,"is_corresponding":false},{"id":53300,"name":"Kwangsik Nho","orcid":"0000-0002-7624-3872","position":24,"is_corresponding":false},{"id":1220245,"name":"Tamina Park","orcid":null,"position":0,"is_corresponding":true}],"reference_count":71,"raw_metadata":null,"created_at":"2026-07-19T02:05:53.032464Z","pmid":"39513963","pmcid":"PMC11667488","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":11.1111,"fair_a":18.75,"fair_i":0.0,"fair_r":25.0,"fair_zscore":-1.1986,"fair_rationale":{"fair_score":4.17,"has_llm":true,"taxonomy_version":"fair_taxonomy_v5","dimensions":{"F":{"name":"Findable","score":11.11,"criteria":[{"key":"f_dataset_pid","label":"Persistent identifier for the data","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No persistent identifier string for the dataset is given; the only DOI is for the article itself.","anchors":["RDA-F1-01D — FAIR Data Maturity Model: 'Data is identified by a persistent identifier' (priorit","RDA-F1-02D — FAIR Data Maturity Model: 'Data is identified by a globally unique identifier'","FsF-F1-02D — F-UJI/FAIRsFAIR: 'Data is assigned a persistent identifier'"],"scored":true,"signal":null},{"key":"f_repository_named","label":"Named repository","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No repository is named as the holder; the data are to be provided by the corresponding author.","anchors":["RDA-F4-01M — FAIR Data Maturity Model: metadata is offered so it can be harvested and indexed (","NIH DMS Policy Element 4 (NOT-OD-21-014) — name the repository where data will be archived","NSTC Desirable Characteristics of Data Repositories (2022) — 'Long-Term Sustainability', 'Reten"],"scored":true,"signal":null},{"key":"f_data_availability_statement","label":"Data-availability statement","kind":"llm","weight":2.0,"fraction":0.5,"verdict":"partial","evidence":"The datasets used and analyzed in this study will be provided by the corresponding author upon approval request.","grounded":true,"rationale":"The DAS exists but points to a person, not a repository record. 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[downgraded to 'no' — no verifiable quote from the paper]","anchors":["RDA-I3-01M — '(meta)data include references to other (meta)data'","RDA-I3-03M — 'metadata includes qualified references to other metadata'","FsF-I3-01M — F-UJI: 'Metadata includes links between the data and its related entities'"],"scored":false,"signal":null}]},"R":{"name":"Reusable","score":25.0,"criteria":[{"key":"r_reuse_license","label":"Reuse licence","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No license is named for the data; the CC-BY-NC license applies to the article only.","anchors":["RDA-R1.1-01M — 'Metadata includes information about the licence under which the data can be reu","RDA-R1.1-02M — 'Metadata refers to a standard reuse licence'","RDA-R1.1-03M — 'Metadata refers to a machine-understandable reuse licence'"],"scored":true,"signal":null},{"key":"r_provenance_methods","label":"Provenance of the data","kind":"llm","weight":1.0,"fraction":1.0,"verdict":"yes","evidence":"The pooled libraries were sequenced on an Illumina NovaSeq 6000 sequencer to generate paired-end 150 bp reads.","grounded":true,"rationale":"Specific instruments and kits are named for data production. 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