Kouichi Ozaki 研究室

主宰者：Kouichi Ozaki

東京大学

兼任：理化学研究所・RIKEN Center for Integrative Medical Sciences

AI 要約（直近 5 年の研究成果）

**研究の問い** この研究室は、加齢に伴う神経変性疾患や加齢関連疾患の発症メカニズムを明らかにすることを主な課題としています。特にアルツハイマー病、レビー小体型認知症、認知機能低下症などの神経疾患、ならびに筋肉量減少症や心房細動などの加齢に伴う疾患を対象とし、これらが東アジア人集団で異なる遺伝的背景を有するのかを検討しています。 **手法** 複数の大規模日本人コホートを活用し、ゲノム全域関連解析（GWAS）、全遺伝子配列解析、全エクソン解析などの最新の遺伝学的手法を駆使しています。また、血液サンプルを用いた遺伝子発現解析やDNA メチル化解析などの分子生物学的手法を組み合わせることで、多層的な視点から疾患の成り立ちを追究しています。肺がんについては、腫瘍組織における単一細胞レベルの免疫細胞解析も行っています。 **主要な発見** 複数の神経疾患では、東アジア特異的な遺伝的リスク因子が存在することが示唆されており、西洋人対象の先行研究だけでは十分でないことが明らかになってきました。また、神経変性疾患の発症には、リボソーム機能の異常に続く免疫系や細胞周期の変化が関与する可能性が指摘されています。さらに、個人の遺伝的背景を考慮することが、認知機能低下の予防的介入の効果を高める鍵となることが示唆されています。

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

外部リンク

研究成果（115 件）

[2025] Alzheimer’s disease may develop from changes in the immune system, cell cycle, and protein processing following alterations in ribosome function
DOI: https://doi.org/10.1038/s41598-025-88526-y
[2025] Alzheimer’s disease may develop from changes in the immune system, cell cycle, and protein processing following alterations in ribosome function
DOI: https://doi.org/10.1038/s41598-025-88526-y
[2025] Genome and transcriptome-wide association studies identify multiple novel loci for dementia with grain in Japanese
DOI: https://doi.org/10.1038/s10038-025-01438-7
[2025] Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer
DOI: https://doi.org/10.1038/s41523-025-00848-2
[2025] Supplementary Figure S12 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029218
[2025] Germline variants of the POLH and RAD51 genes are candidate variants associated with risk of hormone receptor-negative young-onset breast cancer
DOI: https://doi.org/10.1038/s41523-025-00848-2
[2025] An integrative approach to detecting potential blood-based biomarkers of cognitive frailty
DOI: https://doi.org/10.1016/j.jnha.2025.100726
[2025] Abstract 4361108: Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population
DOI: https://doi.org/10.1161/circ.152.suppl_3.4361108
[2025] Supplementary Figure S12 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029218
[2025] Supplementary Figure S1 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029230

続きを表示（残り 105 件）

[2025] Supplementary Figure S11 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029224
[2025] Supplementary Table S2 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029173
[2025] Supplementary Figure S3 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029209
[2025] Supplementary Figure S4 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029203
[2025] Supplementary Figure S10 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029227
[2025] An integrative approach to detecting potential blood-based biomarkers of cognitive frailty
DOI: https://doi.org/10.1016/j.jnha.2025.100726
[2025] Abstract 4361108: Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population
DOI: https://doi.org/10.1161/circ.152.suppl_3.4361108
[2025] Supplementary Figure S1 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029230
[2025] Supplementary Figure S11 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029224
[2025] Supplementary Table S2 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029173
[2025] Supplementary Figure S3 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029209
[2025] Supplementary Figure S4 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029203
[2025] Supplementary Figure S10 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029227
[2025] Data from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.c.8012038
[2025] Supplementary Figure S2 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029215
[2025] Supplementary Figure S5 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029200
[2025] EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.cir-24-0532
[2025] Unraveling time-dependent genetic components underlying alcohol response
DOI: https://doi.org/10.1038/s41386-025-02147-7
[2025] Identification of diagnostic DNA methylation markers in the blood of Japanese Alzheimer’s disease patients using methylation capture sequencing
DOI: https://doi.org/10.1186/s13148-025-01905-0
[2025] Genomic Profiles of Pathogenic and Moderate-Penetrance Germline Variants Associated With Risk of Early-Onset Lung Adenocarcinoma
DOI: https://doi.org/10.1016/j.jtho.2025.06.005
[2025] Genetic background and multidomain interventions in mild cognitive impairment
DOI: https://doi.org/10.1186/s13195-025-01764-0
[2025] Data from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.c.8012038
[2025] Supplementary Figure S2 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029215
[2025] Supplementary Figure S5 from EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.30029200
[2025] EML4–ALK Rearrangement Creates a Distinctive Myeloid Cell–Dominant Immunosuppressive Microenvironment in Lung Cancer
DOI: https://doi.org/10.1158/2326-6066.cir-24-0532
[2025] Unraveling time-dependent genetic components underlying alcohol response
DOI: https://doi.org/10.1038/s41386-025-02147-7
[2025] Identification of diagnostic DNA methylation markers in the blood of Japanese Alzheimer’s disease patients using methylation capture sequencing
DOI: https://doi.org/10.1186/s13148-025-01905-0
[2025] Genomic Profiles of Pathogenic and Moderate-Penetrance Germline Variants Associated With Risk of Early-Onset Lung Adenocarcinoma
DOI: https://doi.org/10.1016/j.jtho.2025.06.005
[2025] Genetic background and multidomain interventions in mild cognitive impairment
DOI: https://doi.org/10.1186/s13195-025-01764-0
[2025] Association of rare APOE missense variants with Alzheimer's disease in the Japanese population
DOI: https://doi.org/10.1177/13872877251340710
[2025] Genome‐Wide Association Study of Atrial Fibrillation Recurrence After Radiofrequency Catheter Ablation in a Japanese Population
DOI: https://doi.org/10.1111/jce.16674
[2025] Identification of a Risk Allele at SLC41A3 and a Protective Allele HLA-DPB1*02:01 Associated with Sarcopenia in Japanese
DOI: https://doi.org/10.1159/000545298
[2025] A genome-wide association study identifies a novel East Asian–specific locus for dementia with Lewy bodies in Japanese subjects
DOI: https://doi.org/10.1186/s10020-025-01115-7
[2025] Association of rare APOE missense variants with Alzheimer's disease in the Japanese population
DOI: https://doi.org/10.1177/13872877251340710
[2025] Genome‐Wide Association Study of Atrial Fibrillation Recurrence After Radiofrequency Catheter Ablation in a Japanese Population
DOI: https://doi.org/10.1111/jce.16674
[2025] Identification of a Risk Allele at SLC41A3 and a Protective Allele HLA-DPB1*02:01 Associated with Sarcopenia in Japanese
DOI: https://doi.org/10.1159/000545298
[2025] A genome-wide association study identifies a novel East Asian–specific locus for dementia with Lewy bodies in Japanese subjects
DOI: https://doi.org/10.1186/s10020-025-01115-7
[2024] Polygenic effects on the risk of Alzheimer’s disease in the Japanese population
DOI: https://doi.org/10.1186/s13195-024-01414-x
[2024] The loss‐of‐function variant in MFSD3 could play a crucial role in the pathogenesis of dementia with Lewy bodies
DOI: https://doi.org/10.1002/alz.086694
[2024] A polygenic risk score contributes to identifying individuals with the potential for cognitive function improvement
DOI: https://doi.org/10.1002/alz.086348
[2024] Identification of stage‐specific blood biomarkers for early diagnosis of Alzheimer’s disease through RNA sequencing analysis
DOI: https://doi.org/10.1002/alz.085323
[2024] Whole-genome sequencing to identify rare variants in East Asian patients with dementia with Lewy bodies
DOI: https://doi.org/10.1038/s41514-024-00180-2
[2024] Abstract 4136501: Machine Learning Uncovers the Contribution of Rare Genetic Variants and Enhances Risk Prediction for Coronary Artery Disease in the Japanese Population
DOI: https://doi.org/10.1161/circ.150.suppl_1.4136501
[2024] The loss‐of‐function variant in MFSD3 could play a crucial role in the pathogenesis of dementia with Lewy bodies
DOI: https://doi.org/10.1002/alz.086694
[2024] A polygenic risk score contributes to identifying individuals with the potential for cognitive function improvement
DOI: https://doi.org/10.1002/alz.086348
[2024] Identification of stage‐specific blood biomarkers for early diagnosis of Alzheimer’s disease through RNA sequencing analysis
DOI: https://doi.org/10.1002/alz.085323
[2024] Whole-genome sequencing to identify rare variants in East Asian patients with dementia with Lewy bodies
DOI: https://doi.org/10.1038/s41514-024-00180-2
[2024] Abstract 4136501: Machine Learning Uncovers the Contribution of Rare Genetic Variants and Enhances Risk Prediction for Coronary Artery Disease in the Japanese Population
DOI: https://doi.org/10.1161/circ.150.suppl_1.4136501
[2024] Molecular subtypes of lung adenocarcinoma present distinct immune tumor microenvironments
DOI: https://doi.org/10.1111/cas.16154
[2024] Molecular subtypes of lung adenocarcinoma present distinct immune tumor microenvironments
DOI: https://doi.org/10.1111/cas.16154
[2024] Population-specific putative causal variants shape quantitative traits
DOI: https://doi.org/10.1038/s41588-024-01913-5
[2024] Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy
DOI: https://doi.org/10.1038/s41439-024-00283-y
[2024] Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
DOI: https://doi.org/10.1038/s10038-024-01266-1
[2024] Genetically Predicted Higher Levels of Caffeic Acid Are Protective Against Ulcerative Colitis: A Comprehensive Metabolome Analysis
DOI: https://doi.org/10.1093/ibd/izae143
[2024] A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals
DOI: https://doi.org/10.1038/s42003-024-06108-6
[2024] Population-specific putative causal variants shape quantitative traits
DOI: https://doi.org/10.1038/s41588-024-01913-5
[2024] Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy
DOI: https://doi.org/10.1038/s41439-024-00283-y
[2024] Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
DOI: https://doi.org/10.1038/s10038-024-01266-1
[2024] Genetically Predicted Higher Levels of Caffeic Acid Are Protective Against Ulcerative Colitis: A Comprehensive Metabolome Analysis
DOI: https://doi.org/10.1093/ibd/izae143
[2024] A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals
DOI: https://doi.org/10.1038/s42003-024-06108-6
[2024] Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes
DOI: https://doi.org/10.1038/s41525-024-00394-z
[2024] The HLA-DRB1*09:01-DQB1*03:03 haplotype is associated with the risk for late-onset Alzheimer’s disease in APOE $${{\varepsilon }}$$4–negative Japanese adults
DOI: https://doi.org/10.1038/s41514-023-00131-3
[2024] Identification of Potential Blood-Based Biomarkers for Frailty by Using an Integrative Approach
DOI: https://doi.org/10.1159/000538313
[2024] Polygenic effects on the risk of Alzheimer’s disease in the Japanese population
DOI: https://doi.org/10.1186/s13195-024-01414-x
[2024] Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes
DOI: https://doi.org/10.1038/s41525-024-00394-z
[2024] The HLA-DRB1*09:01-DQB1*03:03 haplotype is associated with the risk for late-onset Alzheimer’s disease in APOE $${{\varepsilon }}$$4–negative Japanese adults
DOI: https://doi.org/10.1038/s41514-023-00131-3
[2024] Identification of Potential Blood-Based Biomarkers for Frailty by Using an Integrative Approach
DOI: https://doi.org/10.1159/000538313
[2023] RNA-Sequencing Analysis Identification of Potential Biomarkers for Diagnosis of Sarcopenia
DOI: https://doi.org/10.1093/gerona/glad150
[2023] Tumor-infiltrating Leukocyte Profiling Defines Three Immune Subtypes of NSCLC with Distinct Signaling Pathways and Genetic Alterations
DOI: https://doi.org/10.1158/2767-9764.crc-22-0415
[2023] Classification and deep-learning–based prediction of Alzheimer disease subtypes by using genomic data
DOI: https://doi.org/10.1038/s41398-023-02531-1
[2023] RNA-Sequencing Analysis Identification of Potential Biomarkers for Diagnosis of Sarcopenia
DOI: https://doi.org/10.1093/gerona/glad150
[2023] Tumor-infiltrating Leukocyte Profiling Defines Three Immune Subtypes of NSCLC with Distinct Signaling Pathways and Genetic Alterations
DOI: https://doi.org/10.1158/2767-9764.crc-22-0415
[2023] Evaluation of performance of genoSCORETM for predicting onset of Alzheimer’s disease in a Japanese population
DOI: https://doi.org/10.1002/alz.074095
[2023] Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis
DOI: https://doi.org/10.1371/journal.pgen.1010625
[2023] Decrease of cytokinin flux from roots enhances degradation of ribulose-1,5-bisphosphate carboxylase/oxygenase: a mechanism of the accelerated decrease of leaf photosynthesis with senescence under soil moisture stress in rice (Oryza sativa L.)
DOI: https://doi.org/10.1007/s11104-023-06367-y
[2023] Natural Selection Signatures in the Hondo and Ryukyu Japanese Subpopulations
DOI: https://doi.org/10.1093/molbev/msad231
[2023] HLA-DQA1*05 and upstream variants of PPARGC1B are associated with infliximab persistence in Japanese Crohn’s disease patients
DOI: https://doi.org/10.1038/s41397-023-00312-z
[2023] Trans‐ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study
DOI: https://doi.org/10.1002/alz.13378
[2023] Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis
DOI: https://doi.org/10.1371/journal.pgen.1010625
[2023] Correction to: Decrease of cytokinin flux from roots enhances degradation of ribulose‑1,5‑bisphosphate carboxylase/oxygenase: a mechanism of the accelerated decrease of leaf photosynthesis with senescence under soil moisture stress in rice (Oryza sativa L.)
DOI: https://doi.org/10.1007/s11104-023-06402-y
[2023] Evaluation of performance of genoSCORETM for predicting onset of Alzheimer’s disease in a Japanese population
DOI: https://doi.org/10.1002/alz.074095
[2023] Correction to: Decrease of cytokinin flux from roots enhances degradation of ribulose‑1,5‑bisphosphate carboxylase/oxygenase: a mechanism of the accelerated decrease of leaf photosynthesis with senescence under soil moisture stress in rice (Oryza sativa L.)
DOI: https://doi.org/10.1007/s11104-023-06402-y
[2023] Decrease of cytokinin flux from roots enhances degradation of ribulose-1,5-bisphosphate carboxylase/oxygenase: a mechanism of the accelerated decrease of leaf photosynthesis with senescence under soil moisture stress in rice (Oryza sativa L.)
DOI: https://doi.org/10.1007/s11104-023-06367-y
[2023] Natural Selection Signatures in the Hondo and Ryukyu Japanese Subpopulations
DOI: https://doi.org/10.1093/molbev/msad231
[2023] HLA-DQA1*05 and upstream variants of PPARGC1B are associated with infliximab persistence in Japanese Crohn’s disease patients
DOI: https://doi.org/10.1038/s41397-023-00312-z
[2023] Trans‐ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study
DOI: https://doi.org/10.1002/alz.13378
[2023] Classification and deep-learning–based prediction of Alzheimer disease subtypes by using genomic data
DOI: https://doi.org/10.1038/s41398-023-02531-1
[2022] Identification of potential blood biomarkers for early diagnosis of Alzheimer’s disease through immune landscape analysis
DOI: https://doi.org/10.1038/s41514-022-00096-9
[2022] 36‐3: Novel Silicone Hotmelt Adhesive for Display Assembly Applications
DOI: https://doi.org/10.1002/sdtp.15518
[2022] Network‐based meta‐analysis and the candidate gene association studies reveal novel ethnicity‐specific variants in <scp>MFSD3</scp> and <scp>MRPL43</scp> associated with dementia with Lewy bodies
DOI: https://doi.org/10.1002/ajmg.b.32908
[2022] Early-onset Alzheimer Disease Associated With Neuromyelitis Optica Spectrum Disorder
DOI: https://doi.org/10.1097/wad.0000000000000517
[2022] 36‐3: Novel Silicone Hotmelt Adhesive for Display Assembly Applications
DOI: https://doi.org/10.1002/sdtp.15518
[2022] Early-onset Alzheimer Disease Associated With Neuromyelitis Optica Spectrum Disorder
DOI: https://doi.org/10.1097/wad.0000000000000517
[2022] Deep learning-based age estimation from chest X-rays indicates cardiovascular prognosis
DOI: https://doi.org/10.1038/s43856-022-00220-6
[2022] Deep learning-based age estimation from chest X-rays indicates cardiovascular prognosis
DOI: https://doi.org/10.1038/s43856-022-00220-6
[2022] Identification of potential blood biomarkers for early diagnosis of Alzheimer’s disease through immune landscape analysis
DOI: https://doi.org/10.1038/s41514-022-00096-9
[2022] Network‐based meta‐analysis and the candidate gene association studies reveal novel ethnicity‐specific variants in <scp>MFSD3</scp> and <scp>MRPL43</scp> associated with dementia with Lewy bodies
DOI: https://doi.org/10.1002/ajmg.b.32908
[2021] A functional variant of SHARPIN confers increased risk of late-onset Alzheimer’s disease
DOI: https://doi.org/10.1038/s10038-021-00987-x
[2021] Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification
DOI: https://doi.org/10.1038/s10038-021-00943-9
[2021] JAMIR-eQTL: Japanese genome-wide identification of microRNA expression quantitative trait loci across dementia types
DOI: https://doi.org/10.1093/database/baab072
[2021] Abstract 9938: Genetic Architecture and Precision Medicine of Atrial Fibrillation
DOI: https://doi.org/10.1161/circ.144.suppl_1.9938
[2021] Abstract 9938: Genetic Architecture and Precision Medicine of Atrial Fibrillation
DOI: https://doi.org/10.1161/circ.144.suppl_1.9938
[2021] Dementia subtype prediction models constructed by penalized regression methods for multiclass classification using serum microRNA expression data
DOI: https://doi.org/10.1038/s41598-021-00424-1
[2021] Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification
DOI: https://doi.org/10.1038/s10038-021-00943-9
[2021] Dementia subtype prediction models constructed by penalized regression methods for multiclass classification using serum microRNA expression data
DOI: https://doi.org/10.1038/s41598-021-00424-1

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AI 要約（直近 5 年の研究成果）

外部リンク

関連研究室(8 件)

研究成果（115 件）

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