Yukihide Momozawa 研究室

主宰者：Yukihide Momozawa

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

AI 要約（直近 5 年の研究成果）

この研究室は、遺伝情報と疾患・健康状態の関係を明らかにすることを主な目標としています。特に日本人を含む非ヨーロッパ系の集団に焦点を当て、ゲノム規模の関連解析（複数の研究データを統合した遺伝学的分析）を用いて、がん・眼疾患・代謝疾患・心疾患など様々な疾患の発症に関わる遺伝的要因を同定しています。大規模な生体試料バンクのデータを活用し、数万～数十万人規模の参加者から得られた遺伝情報を解析する手法を標準としており、これにより集団特性に応じた疾患リスク因子を明らかにしています。研究の応用面では、個人の遺伝情報に基づいて疾患かかりやすさを予測するリスクスコアの開発に注力しています。食生活や喫煙などの生活習慣との相互作用、および複数の疾患関連遺伝子を統合したリスク評価モデルの構築を進めており、これらは将来的な個別化医療の実現に向けた基礎となります。さらに、遺伝変異が細胞機能にどう影響するかを機能的解析によって検証し、単なる統計的な関連性を超えた生物学的メカニズムの理解を目指しています。

※ 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。

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研究成果（101 件）

[2026] A polymorphism in the DOCK7 gene (rs1167998) is associated with salt restriction behavior in hypertensive patients
DOI: https://doi.org/10.18999/nagjms.88.2.217
[2026] Plasma coproporphyrins for evaluating OATP1B and OATP2B1 activities: Coproporphyrin-III unsuitable as an OATP2B1 biomarker in Japanese general population
DOI: https://doi.org/10.1016/j.dmd.2026.100276
[2026] CXCR4 induces memory formation over exhaustion in CAR-T cells to achieve durable leukemia targeting
DOI: https://doi.org/10.1038/s41467-025-67745-x
[2026] Genome-Wide Meta-Analysis for High Myopia Provides Insights into Disease Mechanisms and Reveals a Causal Link to Primary Open-Angle Glaucoma
DOI: https://doi.org/10.1016/j.xops.2026.101165
[2025] Case-Control Study for 23 Cancer Types With Functional Analysis of CHEK2 : Risk Estimation and Clinical Recommendations in East Asia
DOI: https://doi.org/10.1200/po-24-00945
[2025] Inverse association between fruit juice consumption and type 2 diabetes among individuals with high genetic risk on type 2 diabetes: the Japan Multi-Institutional Collaborative Cohort (J-MICC) study
DOI: https://doi.org/10.1017/s0007114525103863
[2025] Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients
DOI: https://doi.org/10.1038/s41525-025-00541-0
[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] Table S3 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
DOI: https://doi.org/10.1158/1078-0432.30709710
[2025] Table S1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
DOI: https://doi.org/10.1158/1078-0432.30709722

続きを表示（残り 91 件）

[2025] Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan
DOI: https://doi.org/10.1038/s43856-025-01231-9
[2025] Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese population
DOI: https://doi.org/10.1038/s10038-025-01430-1
[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] Genetic variants in dog cytochrome P450 2B6 and their relevance to interindividual variability of oxidations of probe drug propofol
DOI: https://doi.org/10.1016/j.dmd.2025.100189
[2025] Genetic variants of cytochrome P450 2C21 identified by screening 6344 dogs influenced oxidations of the probe drug omeprazole
DOI: https://doi.org/10.1016/j.bcp.2025.117394
[2025] Coffee intake, genetic variants, and chronic kidney disease: a cross-sectional analysis of the Japan Multi-Institutional Collaborative Cohort (J-MICC) study
DOI: https://doi.org/10.1007/s00394-025-03819-2
[2025] Stratifying lung adenocarcinoma risk with multi-ancestry polygenic risk scores in East Asian never-smokers
DOI: https://doi.org/10.1093/jnci/djaf272
[2025] Clinical Significance of TP53 -Mutant Clonal Hematopoiesis Across Diseases
DOI: https://doi.org/10.1158/2643-3230.bcd-24-0355
[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] Differential brain volume between obese and underweight cognitively normal older adults with frailty in the JPSC-AD
DOI: https://doi.org/10.1038/s41598-025-04659-0
[2025] Comparison of polygenic risk scores for type 2 diabetes developed from different ancestry groups
DOI: https://doi.org/10.1038/s44324-025-00059-0
[2025] Steroid‐Modulated Transcription Synergistically Forms <scp>DNA</scp> Double‐Strand Breaks With Topoisomerase <scp>II</scp> Inhibitor
DOI: https://doi.org/10.1111/cas.70081
[2025] Multi‐Trait Polygenic Risk Score, Nongenetic Determinants, and Cardiovascular Disease Death: A Cohort Study of 14 086 Japanese Individuals
DOI: https://doi.org/10.1161/jaha.124.038572
[2025] Comprehensive investigation of gene mutations in canine large cell gastrointestinal lymphoma
DOI: https://doi.org/10.3389/fvets.2025.1535446
[2025] Germline Pathogenic Variants and Clinical Outcomes in Asian Patients With Breast Cancer
DOI: https://doi.org/10.1111/cas.70002
[2025] Smoking behavior-related genetic variants and lung cancer risk in Japanese: an assessment by mediation analysis
DOI: https://doi.org/10.1093/carcin/bgaf011
[2025] Supplementary Methods 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
DOI: https://doi.org/10.1158/1078-0432.30709725
[2025] Green tea consumption and cerebral white matter lesions in community-dwelling older adults without dementia
DOI: https://doi.org/10.1038/s41538-024-00364-w
[2025] Table S2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
DOI: https://doi.org/10.1158/1078-0432.30709716
[2025] Comparative transcriptome atlas as an assistive modality for complex classification of rare kidney cancers
DOI: https://doi.org/10.1038/s41467-025-65303-z
[2025] Mutation rate and spectrum of germline de novo mutations in a closed population of Thoroughbred horses
DOI: https://doi.org/10.1016/j.jevs.2025.105682
[2024] Population-specific putative causal variants shape quantitative traits
DOI: https://doi.org/10.1038/s41588-024-01913-5
[2024] Interethnic analyses of blood pressure loci in populations of East Asian and European descent
DOI: https://doi.org/10.17615/ttxc-kk49
[2024] Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population
DOI: https://doi.org/10.1038/s42003-024-07338-4
[2024] Cancer and disease profiles for PTEN pathogenic variants in Japanese population
DOI: https://doi.org/10.1038/s10038-024-01311-z
[2024] Polygenic Risk Score and Lung Adenocarcinoma Risk Among Never-Smokers by EGFR Mutation Status: A Brief Report
DOI: https://doi.org/10.1016/j.jtho.2024.11.019
[2024] Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population
DOI: https://doi.org/10.1038/s41525-024-00431-x
[2024] Combined Targeting Patient-Specific Anti-Apoptotic Molecules and CXCR4-Expressing CAR-T Cells Eliminated High-Inflammation State Leukemia with Poor-Prognostic Mutations
DOI: https://doi.org/10.1182/blood-2024-204989
[2024] Prevalence and outcomes of germline pathogenic variants of homologous recombination repair genes in ovarian cancer
DOI: https://doi.org/10.1111/cas.16367
[2024] (Not So) Lost in Translation: Considering the GA4GH Diversity in Datasets Policy in the Japanese Context
DOI: https://doi.org/10.1007/s41649-024-00305-5
[2024] Polygenic risk score for blood pressure and lifestyle factors with overall and CVD mortality: a prospective cohort study in a Japanese population
DOI: https://doi.org/10.1038/s41440-024-01766-9
[2024] Germline Susceptibility to Renal Cell Carcinoma and Implications for Genetic Screening
DOI: https://doi.org/10.1200/po.24.00094
[2024] RNF213 Variants, Vasospastic Angina, and Risk of Fatal Myocardial Infarction
DOI: https://doi.org/10.1001/jamacardio.2024.1483
[2024] Genetic drivers and cellular selection of female mosaic X chromosome loss
DOI: https://doi.org/10.1038/s41586-024-07533-7
[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] Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing
[2024] Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing
DOI: https://doi.org/10.1126/sciadv.adi8419
[2024] Serum high-sensitivity C-reactive protein and dementia in a community-dwelling Japanese older population (JPSC-AD)
DOI: https://doi.org/10.1038/s41598-024-57922-1
[2024] Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
DOI: https://doi.org/10.1136/jmg-2023-109750
[2024] Interaction between Habitual Green Tea and Coffee Consumption and ACTN3 Genotype in Association with Skeletal Muscle Mass and Strength in Middle-Aged and Older Adults
DOI: https://doi.org/10.14283/jfa.2024.3
[2024] Clinical features and impact of p53 status on sporadic mismatch repair deficiency and Lynch syndrome in uterine cancer
DOI: https://doi.org/10.1111/cas.16121
[2024] Evaluation of the usefulness of plasma 4β‐hydroxycholesterol concentration normalized by 4α‐hydroxycholesterol for accurate CYP3A phenotyping
DOI: https://doi.org/10.1111/cts.13768
[2024] A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure
DOI: https://doi.org/10.17615/be0e-5074
[2024] Investigation of the mutations in the genes involved in Janus kinase/signal transducer and activator of transcription pathway in canine large cell gastrointestinal lymphoma
DOI: https://doi.org/10.1292/jvms.24-0096
[2023] Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
DOI: https://doi.org/10.1038/s41588-023-01534-4
[2023] Mobile element variation contributes to population-specific genome diversification, gene regulation and disease risk
DOI: https://doi.org/10.1038/s41588-023-01390-2
[2023] Natural Selection Signatures in the Hondo and Ryukyu Japanese Subpopulations
DOI: https://doi.org/10.1093/molbev/msad231
[2023] Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model
DOI: https://doi.org/10.1038/s10038-023-01194-6
[2023] Abstract B010: Germline susceptibility to renal cell carcinoma and implications for genetic screening
DOI: https://doi.org/10.1158/1538-7445.kidney23-b010
[2023] A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants
DOI: https://doi.org/10.1126/sciadv.adg6319
[2023] GWAS of Folate Metabolism With Gene–environment Interaction Analysis Revealed the Possible Role of Lifestyles in the Control of Blood Folate Metabolites in Japanese: The J-MICC Study
DOI: https://doi.org/10.2188/jea.je20220341
[2023] Association Between Frequency of Social Contact and Brain Atrophy in Community-Dwelling Older People Without Dementia
DOI: https://doi.org/10.1212/wnl.0000000000207602
[2023] Investigating the association between glycaemic traits and colorectal cancer in the Japanese population using Mendelian randomisation
DOI: https://doi.org/10.1038/s41598-023-33966-7
[2023] Genome-wide association studies in advanced prostate cancer: KYUCOG-1401-A study
DOI: https://doi.org/10.1530/erc-23-0044
[2023] Helicobacter pylori , Homologous-Recombination Genes, and Gastric Cancer
DOI: https://doi.org/10.1056/nejmoa2211807
[2023] MP69-02 CLINICAL IMPACT OF CANCER PREDISPOSING GENES ON UPPER URINARY TRACT UROTHELIAL CARCINOMA: A LARGE SCALE GENOME ANALYSIS IN JAPAN
DOI: https://doi.org/10.1097/ju.0000000000003332.02
[2023] Variant spectrum of von Hippel–Lindau disease and its genomic heterogeneity in Japan
DOI: https://doi.org/10.1093/hmg/ddad039
[2023] Development of a high‐throughput screening method for the detection of 188 pathogenic variants and its application in Mishima cattle
DOI: https://doi.org/10.1111/age.13301
[2023] Association of 25-hydroxyvitamin D with risk of overall and colorectal cancer among Japanese using a Mendelian randomization approach
DOI: https://doi.org/10.1038/s41598-023-29596-8
[2023] Detection of trait-associated structural variations using short-read sequencing
DOI: https://doi.org/10.1016/j.xgen.2023.100328
[2023] Effects of gene–lifestyle interactions on obesity based on a multi-locus risk score: A cross-sectional analysis
DOI: https://doi.org/10.1371/journal.pone.0279169
[2023] Genome-wide association study reveals BET1L associated with survival time in the 137,693 Japanese individuals
DOI: https://doi.org/10.1038/s42003-023-04491-0
[2023] BMI and Cardiometabolic Traits in Japanese: A Mendelian Randomization Study
DOI: https://doi.org/10.2188/jea.je20220154
[2023] Comparison of the loci associated with HbA1c and blood glucose levels identified by a genome-wide association study in the Japanese population
DOI: https://doi.org/10.1007/s13340-023-00618-0
[2023] Genetic variations predicting progression with docetaxel and novel androgen‐receptor pathway inhibitors
DOI: https://doi.org/10.1111/cas.15718
[2022] Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes
DOI: https://doi.org/10.1186/s13023-022-02262-4
[2022] CKD, Brain Atrophy, and White Matter Lesion Volume: The Japan Prospective Studies Collaboration for Aging and Dementia
DOI: https://doi.org/10.1016/j.xkme.2022.100593
[2022] Detailed Analysis of the Impact of Clonal Hematopoiesis on the Risk of Severe COVID-19 Infection
DOI: https://doi.org/10.1182/blood-2022-160436
[2022] Germline Risks and Clinical Impacts of DDX41 Mutations in Myeloid Malignancies
DOI: https://doi.org/10.1182/blood-2022-158851
[2022] Germ lineDDX41mutations define a unique subtype of myeloid neoplasms
DOI: https://doi.org/10.1182/blood.2022018221
[2022] Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer
DOI: https://doi.org/10.1016/j.jhep.2022.09.025
[2022] Genetic polymorphism of pleiotrophin is associated with pain experience in Japanese adults: Case-control study
DOI: https://doi.org/10.1097/md.0000000000030580
[2022] Prevalence and risk estimation of cancer-predisposing genes for upper urinary tract urothelial carcinoma in Japanese
DOI: https://doi.org/10.1093/jjco/hyac141
[2022] Association between germline pathogenic variants in cancer‐predisposing genes and lymphoma risk
DOI: https://doi.org/10.1111/cas.15522
[2022] Blood Lipids and the Risk of Colorectal Cancer: Mendelian Randomization Analyses in the Japanese Consortium of Genetic Epidemiology Studies
DOI: https://doi.org/10.1158/1940-6207.capr-22-0146
[2022] Prognostic significance of pathogenic variants in BRCA1, BRCA2, ATM and PALB2 genes in men undergoing hormonal therapy for advanced prostate cancer
DOI: https://doi.org/10.1038/s41416-022-01915-2
[2022] Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing
DOI: https://doi.org/10.1136/jmedgenet-2022-108428
[2022] Associations of Genome-Wide Polygenic Risk Score and Risk Factors With Hypertension in a Japanese Population
DOI: https://doi.org/10.1161/circgen.121.003612
[2022] Genome-wide association study of platelet factor 4/heparin antibodies in heparin-induced thrombocytopenia
DOI: https://doi.org/10.1182/bloodadvances.2022007673
[2022] Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants
DOI: https://doi.org/10.1001/jamaoncol.2022.0476
[2022] ABO O blood group as a risk factor for platelet reactivity in heparin-induced thrombocytopenia
DOI: https://doi.org/10.1182/blood.2021014240
[2022] Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross‐sectional study
DOI: https://doi.org/10.1111/cas.15316
[2022] Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort
DOI: https://doi.org/10.1016/j.xgen.2022.100109
[2022] A genome-wide association study on adherence to low-carbohydrate diets in Japanese
DOI: https://doi.org/10.1038/s41430-022-01090-w
[2022] Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy
DOI: https://doi.org/10.1093/jncics/pkac001
[2021] Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
DOI: https://doi.org/10.1038/s41588-021-00913-z
[2021] OUP accepted manuscript
DOI: https://doi.org/10.1093/hmg/ddab345
[2021] Abstract 13700: Combined Landscape of Single-Nucleotide Variants and Copy-Number Alterations in Clonal Hematopoiesis and Their Impact on Hematological and Cardiovascular Outcomes
DOI: https://doi.org/10.1161/circ.144.suppl_1.13700
[2021] Identification of Patient-Specific Anti-Apoptotic Molecules As Therapeutic Targets in Poor Prognosis Acute Lymphoblastic Leukemia (ALL)
DOI: https://doi.org/10.1182/blood-2021-147625
[2021] Topic: AS04-MDS Biology and Pathogenesis/AS04a-Normal, MDS, and leukemic stem cells
DOI: https://doi.org/10.1016/j.leukres.2021.106679.3
[2021] Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer
DOI: https://doi.org/10.1038/s10038-021-00980-4

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AI 要約（直近 5 年の研究成果）

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研究成果（101 件）

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