Research ID
hum0311-v2Release info
Research title
Management of Biobank Japan and the investigation of disease biomarkers for the realization of personalized medicine / Discovery of disease makers from disease cohort network
Research overview
- Aims
- The BioBank Japan (BBJ) is a biobank established in the Institute of Medical Science, the University of Tokyo to collect clinical information and biological materials (DNA and serum samples). It collected about 200 thousand participants of 47 diseases started in 2003 (BBJ 1st cohort), and 67 thousand participants of 38 diseases started in 2013 (BBJ 2nd cohort), both in collaboration with 12 medical centers." This project is aiming at further utilization of the materials, and clinical and genomic information managed by BBJ to contribute to precision medicine by storing, managing, and providing the materials and data, as well as identifying biomarkers associated with disease risk, prognosis, and drug sensitivity.
- Methods
- Asian Screening Array (ASA-24v1-0_A2)
Imputation results based on TOPMed r2 (GRCh38)
Quantification of 250 metabolic biomarkers by NMR spectroscopy
Genome-wide association study (GWAS) for peptic ulcers
proteomics analyses - Participants/materials
- BBJ 1st cohort (n = 11,716 + 180,882 + 1,285 + 2,570 + 40,907 + 3,050), BBJ 2nd cohort (n = 42,689), ToMMo (n = 49,621), UK biobank (n = 456,327), and FinnGen (n = 230,635)
Datasets
The list is the one this version published; each dataset's content is shown as it is now.
| Cart | Dataset ID | Type of data | Analysis method | Access criteria | Date published |
|---|---|---|---|---|---|
| JGAD000529 | Genotype data for 11,716 patients from BBJ 1st cohort and 42,689 patients from BBJ 2nd cohort |
| Controlled-access (Type I) | 2021-12-13 | |
| JGAD000660 | Imputation data and index data for 180,882 patients from BBJ 1st cohort |
| Controlled-access (Type I) | 2022-08-12 |
Data provider
- Principal investigator
- Koichi Matsuda
- Affiliation
- Graduate school of Frontier Science, The University of Tokyo
Research projects
| Name | URL |
|---|---|
Management of disease-oriented biobank in Japan for utilization |
Grants
| Name | Title | Project number |
|---|---|---|
Biobank - Construction and Utilization biobank for genomic medicine REalization (B-Cure), Japan Agency for Medical Research and Development (AMED) | Management of disease-oriented biobank in Japan for utilization |
|
Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED) | Phenotype-wide association study of 180,000 Biobank Japan samples using high density imputation of TOPMED reference panel |
|
Related publications
| Title | DOI | Dataset ID |
|---|---|---|
East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease | ||
Genotype imputation accuracy and the quality metrics of the minor ancestry in multi-ancestry reference panels |
Controlled access users
| Principal investigator | Affiliation | Country/Region | Research title | Period of data use | Dataset ID |
|---|---|---|---|---|---|
| Taisei Mushiroda | RIKEN Center for Integrative Medical Sciences | Japan | SNP analysis of wheat allergy | 2021-03-26 – 2028-03-31 | |
| Yoshihiro Asano | Department of Cardiovascular Medicine Graduate School of Medicine, Osaka University | Japan | Sensitive gene analysis of hereditary cardiovascular disease | 2021-07-26 – 2027-05-31 | |
| Seishi Ogawa | Graduate School of Medicine, Kyoto University | Japan | Analysis on the relationship between clonal hematopoiesis and COVID-19 infection. | 2022-08-18 – 2026-08-05 | |
| Yukinori Okada | Department of Statistical Genetics, Graduate School of Medicine, Osaka University | Japan | Development of statistical genetic analysis methods using the whole-genome data from B cell lines of Japanese individuals | 2022-09-15 – 2029-03-31 | |
| Koya Fukunaga | Medical safety science, National institute of health sciences | Japan | Research on the diagnosis, treatment, and biomarkers for severe cutaneous adverse reactions | 2023-02-10 – 2026-03-02 | |
| Koya Fukunaga | Medical safety science, National institute of health sciences | Japan | Research on the biomarkers associated with drug-induced interstitial pneumonia | 2023-02-10 – 2026-03-02 | |
| Koya Fukunaga | Medical safety science, National institute of health sciences | Japan | Research on the biomarkers associated with drug-induced liver injury | 2023-02-10 – 2024-04-02 | |
| Koya Fukunaga | Medical safety science, National institute of health sciences | Japan | Research on the biomarkers associated with drug-induced myopathy | 2023-02-10 – 2026-03-02 | |
| Shigeo Kamitsuji | Statistical Analysis Division, StaGen Co., Ltd. | Japan | Genome-Wide Association Study to identify genetic factors for strabismus in Japanese population | 2023-02-14 – 2027-02-28 | |
| Yuta Kochi | Department of Genomic Function and Diversity, Medical Research Institute, Tokyo Medical and Dental University | Japan | Genetic study of complex diseases through comprehensive analysis of functional genetic variations | 2023-04-12 – 2028-03-31 | |
| Masaki Kato | 精神神経科, 関西医科大学 | Japan | Exploratory and validation study of genetic and biological factors for the development of precision medicine algorithms for psychiatric disorders. | 2023-08-25 – 2028-06-30 | |
| Hiroki Kimura | Department of Psychiatry, Nagoya University Graduate school of medicine | Japan | Research on elucidation of susceptibility to brain and mental illness (vulnerability to disease onset) and efficacy and side effects of drugs (treatment responsiveness) through genetic analysis | 2023-11-17 – 2028-10-28 | |
| Yoshihiro Asano | Dept. of Genomic Medicine, National Cerebral and Cardiovascular Center | Japan | Nationwide Platform for the Promotion of Genomic Medicine in Cardiovascular Diseases | 2023-12-14 – 2035-03-31 | |
| Chikashi Terao | Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences | Japan | Research on personalized medicine based on genomics information | 2023-11-21 – 2026-07-10 | |
| Tsukasa Okamoto | The Center for Personilized Medicine for Healthy Aging, Tokyo Medical and Dental University | Japan | Prospective study on analysis of genes causing or related to interstitial pneumonia | 2024-04-12 – 2027-03-31 | |
| Chikashi Terao | Immunology Research, Clinical Research Center, Shizuoka General Hospital | Japan | Investigation of Genetic Factors Associated with Human Phenotypic Traits | 2024-04-25 – 2028-12-03 | |
| Masao Nagasaki | Division of Biomedical Information Analysis, Medical Research Center for High Depth Omics, Medical Institute of Bioregulation, Kyushu University | Japan | Development and application of bioinformatics methods to facilitate the detection of genes associated with multifactorial disorders based on large-scale whole genome sequencing data of Japanese individuals | 2024-06-24 – 2027-03-31 | |
| Emiko Noguchi | Department of Medical Genetics, Faculty of Medicine, University of Tsukuba | Japan | Genome wide association study for WDEIA and exploration of wheat products | 2024-05-09 – 2028-03-31 | |
| Norihiro Kato | Gene Diagnostics and Therapeutics, National Center for Global Health and Medicine | Japan | Study of genetic predisposition of primary aldosteronism and its clinical significance | 2024-06-24 – 2029-03-31 | |
| Kouya Shiraishi | Department of Clinical Genomics, National Cancer Center Research Institute | Japan | Search for genes involved in susceptibility to lung cancer | 2024-06-24 – 2025-12-15 | |
| Taisei Mushiroda | Laboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences | Japan | Search of genomic biomarkers associated with drug-induced eruptions | 2024-08-01 – 2028-03-31 | |
| Atsushi Ono | Hiroshima University | Japan | Utilizing Genomic Information to Address Challenges in Liver Diseases | 2025-06-25 – 2034-03-31 | |
| Ryosuke Kimura | Department of Human Biology and Anatomy, Graduate School of Medicine, University of the Ryukyus | Japan | Construction of a human genome reference dataset and its application to population genetics and molecular evolutionary analyses | 2025-09-17 – 2028-03-31 | |
| Katsushi Tokunaga | Genome Medical Science Project, Japan Institute for Health Security, National Institute of Global Health and Medicine | Japan | Development and application of bioinformatics methods to facilitate the detection of genes associated with multifactorial disorders based on large-scale whole genome sequencing data in Japanese individuals | 2026-07-10 – 2027-03-31 | |
| Shigeo Horie | Department of Urology, Juntendo University, Graduate School of Medicine | Japan | Validation of Biological Age Models Using Proteomics and Metabolomics Data | 2025-11-13 – 2030-03-31 | |
| Chikashi Terao | Center for Genomic Medicine, Research Promotion Headquarters, Fujita Health University | Japan | Research on Personalized Medicine Leveraging Integrated Genomic Data | 2026-09-03 – 2036-03-31 |