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Initiatives & Research

Our Initiatives and Research Outcomes

Aiming to Contribute to Genome Research by providing the BBJ’s Biological Samples and Data

Since its inception in 2003, BioBank Japan has collected biological samples and clinical information from as many as 270,000 patients through cooperating medical institutions nationwide. Those samples and data are stored under full security measures, with names and other personal information removed and IDs attached for research purposes. We then provide those samples and data to academic research institutions, private companies, and other researchers who aim to realize tailor-made medicine and develop new diagnostic and therapeutic methods. In recent years, we have also actively promoted genomic and omics analysis through various frameworks including industry-academia collaboration, and rapidly disseminating the analyzed data not only in the BBJ database but also in public databases.

Many significant research outcomes have been produced using BBJ’s samples and data. These achievements have been published in many prestigious international scientific journals, including the renowned journal Nature, and shared within the scientific communities worldwide, thereby contributing to the development of genome research and genome medicine not only in Japan but around the world.

Our History

1st cohort

The study draws its foundation from DNA, serum and clinical information originating from a cohort comprising approximately 200,000 individuals over the period spanning from June 2003 to March 2008. (47 diseases)
Serum and clinical information have been systematically collected from patients who have consistently attended the hospital since April 2008.

2nd cohort

The study is built on the basis of DNA, serum and clinical information originating from a cohort of approximately 70,000 individuals over the period spanning from December 2012 to December 2017. (38 diseases: 34 diseases common to the 1st cohort + 4 new diseases)

For details please visit the following page.

Our History

Provision of Samples and Data

Total 51 diseases, 453,875 DNA samples, 111,890 Serum samples

(as of March 31, 2023)

Samples and Data Distributed by BBJ for Use
(as of 2023.3.31)

DNASerumClinical Information、
Genome Data(NBDC)
Academic InstitutionsCompaniesAcademic InstitutionsCompaniesAcademic InstitutionsCompanies
The 1st phase
The 2nd phase
The 3rd phase
The 4th phase

The number of samples and data distributed in the fiscal year 2022 (April-December) is listed below. Samples and data are available approximately 2 weeks after the start of screening.

List of Studies and Researchers Supported by BBJ’s Samples and Data (Japanese only)

Major Research Achievements to Date

As of the end of December 2022, approx. 600 studies, either conducted using BBJ samples and data or related to BBJ research, have been published in international scientific journals. Utilizing BBJ samples and data, researchers have identified genes associated with specific diseases and drugs, as well as genes linked to physical characteristics and biomarkers. Additionally, reports have been made on the characteristics of the collaborating patients who generously donated their biological samples and data to BBJ. It is hoped that the outcomes of such research will be widely shared and utilized by researchers around the world, contributing to the advancement of genomic medicine.

Research Papers Published Using BBJ Samples and Data (by disease)

Papers published using BBJ samples and data cover the following diseases.

Disease classificationName of disease
Neurological and Psychiatric DisordersAlzheimer’s disease, Mood disorders, ALS, bipolar disorder, Parkinson’s disease
Ophthalmologic and Otolaryngologic diseasesAllergic rhinitis, Age-related macular degeneration, Glaucoma
Endocrine and Metabolic DisordersDyslipidemia, Gout and hyperuricemia, Diabetes, Graves’ disease
Cardiac and Cerebrovascular diseasesAtherothrombotic stroke, Coronary heart disease, Thoracic aortic aneurysm, Ischemic stroke, Myocardial infarction, Cardiovascular disease, Atrial fibrillation, Kawasaki disease, Intracranial aneurysm, Cerebral infarction, Thoracic aortic aneurysm, Terminal venous sinus disease (PAD)
Neoplastic diseaseStomach cancer, Liver cancer, Esophagus cancer, Pancreas cancer, Prostate cancer, Colon cancer, Gallbladder cancer, Breast cancer, Lung cancer, Diffuse large B-cell lymphoma, Bladder cancer
Gastrointestinal disorderHepatitis B. Hepatitis C. Gastric ulcer, Inflammatory bowel disease, Ulcerative colitis, Liver disorders, Crohn’s disease, Autoimmune hepatitis, Duodenal ulcer
Respiratory illnessTuberculosis, Asthma, Idiopathic pulmonary fibrosis
Renal and Urinary tract diseasesRenal function, Kidney stones, Nephrotic syndrome
Gynecological disorderUterine fibroids, Endometriosis
Bone and Connective Tissue DiseasesRheumatoid arthritis, Ossification of posterior longitudinal ligament, Osteoporosis, Systemic lupus erythematosus, Systemic sclerosis, Idiopathic scoliosis, Idiopathic osteonecrosis of femoral head,
Osteoarthritis of the knee, Lumbar disc degeneration
Skin diseaseAtopic dermatitis. Keloids
Dental and Oral DiseasesPeriodontitis
Drug relatedAdverse effects, Drug responsiveness, Drug hypersensitivity syndrome (drug rash)
OthersCharacteristics of all BBJ registrants, Physical characteristics, Statistics and other research methods, Biomarkers and laboratory values
(as of 2022.12.30)

Major publications as of 2023.12

2023East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease
Yunye He, Masaru Koido, Yoichi Sutoh, et al.
Nature Genetics
2023Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer
Yuki Okawa, Yusuke Iwasaki, Todd A. Johnson, et al.
Journal of Hepatology
2023Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction
Kazuo Miyazawa, Kaoru Ito, Masamichi Ito, et al.
Nature Genetics
2023Genome-Wide Association Study of Lung Adenocarcinoma in East Asia and Comparison with a European Population
Keiko Hikino, Nao Tanaka, Masaru Koido, et al.
Journal of Investigative Dermatology
2022Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
Kazuyoshi Ishigaki, Saori Sakaue, Chikashi Terao, et al.
Nature Genetics
2022Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants
Yukihide Momozawa, Rumi Sasai, Yoshiaki Usui, et al.
JAMA Oncology
2022Stroke genetics informs drug discovery and risk prediction across ancestries
Aniket Mishra , Rainer Malik , Tsuyoshi Hachiya , et al.
2020Identification of type 2 diabetes loci in 433,540 East Asian individuals
Kenichi Yamamoto, Kyuto Sonehara, Shinichi Namba, et al.
2020Large-scale Genome-Wide Association Study in a Japanese Population Identifies Novel Susceptibility Loci Across Different Diseases
Yuya Sekine, Yusuke Iwasaki, Tomomi Aoi, et al.
Human Molecular Genetics
2019Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population
Suzuki K, Akiyama M, Ishigaki K, et al.
Nature Genetics

Numerous papers presenting the outcomes of research conducted using BBJ samples and data have been published in the international scientific journal Nature.

BBJ published a booklet summarizing the outcomes of those studies in March 2021.

For a list of past research outcomes and press releases, please see below.

List of Publications

Press Release

Genomic and Omics Analysis

Entering its fifth phase of operations in the fiscal year 2023, BBJ is actively promoting the utilization of samples and data to advance the implementation of genomic medicine. In recent years, advancements in genome analysis and omics data, encompassing comprehensive biomolecular information, have been propelled by next-generation sequencing and other analytical technologies. Consequently, genomic and omics analysis data are extensively applied in research, particularly for biomarker discovery and the development of novel clinical and therapeutic methods. Against this backdrop, BBJ is further enhancing the genome and omics analysis of biological samples provided by participants (patients) to serve as a robust database for genome research.

Establish a multi-omics data infrastructure to promote research and utilization of data

BBJ is enhancing a multi-omics data infrastructure targeting diseases such as liver diseases, autoimmune and allergic diseases, dementia, cardiovascular diseases, and infectious diseases.

For more information on the genomic and omics analysis, and for publicly available analysis data from BBJ, please refer to the following pages.

Genomic and Omics Analysis

Available Genomic and Omics data

Joint Research/Collaboration with BBJ

Industry-University Collaboration/International Collaboration Initiatives

BioBank Japan collected and stored valuable biological samples and clinical information donated from patients diagnosed with 51 diseases. In current field of genome analysis research, the majority of studies are conducted using samples and data from Westerners, and there are still few studies targeting East Asians, including Japanese. Therefore, the significance of BBJ as a disease-oriented biobank holding samples and data from approximately 270,000 Japanese patients is valuable. In addition to providing samples and data for genome research, BBJ is speeding up genome and omics analysis and rapid data sharing through the framework of industry-academia collaboration and international cooperation etc..
The BBJ also welcomes visitors from around the world, who tour the BBJ’s sample storage facilities and exchange opinions with BBJ researchers, thereby contributing to the development of genome medicine not only in Japan but also in the world.

For more information on recent joint research with industry-academia collaboration, please refer to the Joint Research /Collaboration with BBJ page.