{"id":"hum0311","version":5,"url":"https://humandbs.dbcls.jp/research/hum0311/v5","datePublished":"2023-07-27","versions":[{"version":1,"datePublished":"2021-11-30"},{"version":2,"datePublished":"2022-07-28"},{"version":3,"datePublished":"2022-09-08"},{"version":4,"datePublished":"2023-04-24"},{"version":5,"datePublished":"2023-07-27"},{"version":6,"datePublished":"2024-05-22"},{"version":7,"datePublished":"2025-06-11"}],"title":{"ja":"バイオバンク・ジャパンの運営・管理と個別化医療の実現に向けた疾患バイオマーカー探索 / 疾患コホート研究ネットワークによる疾患マーカー探索研究","en":"Management of Biobank Japan and the investigation of disease biomarkers for the realization of personalized medicine / Discovery of disease makers from disease cohort network"},"summary":{"aims":{"ja":"バイオバンク・ジャパン（BBJ）は、東京大学医科学研究所内に設置された臨床情報と生体試料（DNA・血清）のバイオバンクで、平成15（2003）年に委託事業として出発した「オーダーメイド医療実現化プロジェクト」により国内12協力医療機関と協力して収集された47疾患・約20万人（第一コホート）、並びに平成25（2013）年度に開始した「オーダーメイド医療の実現プログラム」により同様の方法で収集された38疾患・約6.7万人（第二コホート）からなる我が国の重要な研究基盤である。 本研究ではBBJが管理する試料・臨床情報及びゲノム情報のさらなる利活用を目指して、試料・情報の保管、管理、提供を継続して実施するとともに、生体試料やゲノム情報、臨床情報を用いて疾患のリスクや予後、薬剤感受性に関わるバイオマーカーを同定し、個別化医療に貢献する。","en":"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":{"ja":"Asian Screening Array （ASA-24v1-0_A2）による塩基配列決定\nTOPMed r2を用いたimputationデータ（GRCh38）\n血清サンプルについてNMR装置により取得したスペクトラムの250代謝物の定量データ\n血清サンプルについてのプロテオミクス解析データ\n消化性潰瘍のゲノムワイド関連解析","en":"Asian Screening Array (ASA-24v1-0_A2)\nImputation results based on TOPMed r2 (GRCh38)\nQuantification of 250 metabolic biomarkers by NMR spectroscopy\nGenome-wide association study (GWAS) for peptic ulcers\nproteomics analyses"},"targets":{"ja":"BBJ第一コホート（11,716＋180,882＋1,285＋2,570＋40,907＋3,050名）、BBJ第二コホート（42,689名）、ToMMo（49,621名）、UKバイオバンク（456,327名）、FinnGen（230,635名）","en":"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)"},"url":{"ja":[{"url":"https://biobankjp.org/","text":"https://biobankjp.org/"}],"en":[{"url":"https://biobankjp.org/en/index.html","text":"https://biobankjp.org/en/index.html"}]}},"listingSummary":{},"releaseNote":{"ja":"BBJ第一コホートおよび第二コホートならびに多人種集団の末梢血より抽出したDNAを用いた、消化性潰瘍のゲノムワイド関連解析データ（メタ解析データ）を提供する（txt）。","en":"DNAs extracted from the Japanese and trans-ethnic populations were genotyped, imputed, and performed genome-wide association studies and meta-analyses for peptic ulcer disease (text file)."},"dataProviders":[{"name":{"ja":"松田 浩一","en":"Koichi Matsuda"},"organization":{"name":{"ja":"東京大学大学院 新領域創成科学研究科","en":"Graduate school of Frontier Science, The University of Tokyo"}}}],"researchProjects":[{"name":{"ja":"利活用を目的とした日本疾患バイオバンクの運営・管理","en":"Management of disease-oriented biobank in Japan for utilization"},"url":{"ja":[{"url":"https://biobankjp.org/","text":"https://biobankjp.org/"}],"en":[{"url":"https://biobankjp.org/en/index.html","text":"https://biobankjp.org/en/index.html"}]}}],"grants":[{"title":{"ja":"利活用を目的とした日本疾患バイオバンクの運営・管理","en":"Management of disease-oriented biobank in Japan for utilization"},"agency":{"ja":"日本医療研究開発機構（AMED） ゲノム医療実現バイオバンク利活用プログラム（B-Cure）","en":"Biobank - Construction and Utilization biobank for genomic medicine REalization (B-Cure), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20km0605001","JP23tm0624002"]},{"title":{"ja":"TOPMED panelを用いた高密度Imputationによる、バイオバンクジャパン18万症例のphenotype横断的解析","en":"Phenotype-wide association study of 180,000 Biobank Japan samples using high density imputation of TOPMED reference panel"},"agency":{"ja":"日本医療研究開発機構（AMED） ゲノム医療実現推進プラットフォーム事業","en":"Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21km0405215"]}],"relatedPublications":[{"title":"East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease","doi":"https://doi.org/10.1038/s41588-023-01569-7","datasets":["NHA000189"]},{"title":"Genotype imputation accuracy and the quality metrics of the minor ancestry in multi-ancestry reference panels","doi":"https://doi.org/10.1093/bib/bbad509","datasets":["JGAD000660"]}],"datasets":["JGAD000529","JGAD000660","JGAD000683","NHA000189"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"莚田 泰誠","en":"Taisei Mushiroda"},"affiliation":{"ja":"ファーマコゲノミクス研究チーム, 理化学研究所　生命医科学研究センター","en":"RIKEN Center for Integrative Medical Sciences"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"小麦アレルギーの遺伝子多型解析","en":"SNP analysis of wheat allergy"},"periodStart":"2021-03-26","periodEnd":"2028-03-31","datasets":["JGAD000529","JGAD000660"]},{"principalInvestigator":{"ja":"朝野 仁裕","en":"Yoshihiro Asano"},"affiliation":{"ja":"大学院医学系研究科循環器内科学, 大阪大学","en":"Department of Cardiovascular Medicine Graduate School of Medicine, Osaka University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"遺伝性心血管疾患の感受性遺伝子解析研究","en":"Sensitive gene analysis of hereditary cardiovascular disease"},"periodStart":"2021-07-26","periodEnd":"2027-05-31","datasets":["JGAD000529"]},{"principalInvestigator":{"ja":"小川 誠司","en":"Seishi Ogawa"},"affiliation":{"ja":"腫瘍生物学講座, 京都大学医学部医学研究科","en":"Graduate School of Medicine, Kyoto University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"クローン性造血と新型コロナウイルス感染症の関連性についての解析","en":"Analysis on the relationship between clonal hematopoiesis and COVID-19 infection."},"periodStart":"2022-08-18","periodEnd":"2026-08-05","datasets":["JGAD000529"]},{"principalInvestigator":{"ja":"岡田 随象","en":"Yukinori Okada"},"affiliation":{"ja":"大学院医学系研究科遺伝統計学, 大阪大学","en":"Department of Statistical Genetics, Graduate School of Medicine, Osaka University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"日本人由来B細胞株DNAのゲノムデータを用いた遺伝統計解析手法の研究","en":"Development of statistical genetic analysis methods using the whole-genome data from B cell lines of Japanese individuals"},"periodStart":"2022-09-15","periodEnd":"2029-03-31","datasets":["JGAD000529","JGAD000660"]},{"principalInvestigator":{"ja":"福永 航也","en":"Koya Fukunaga"},"affiliation":{"ja":"医薬安全科学部, 国立医薬品食品衛生研究所","en":"Medical safety science, National institute of health sciences"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"重篤な皮膚有害事象の診断・治療と遺伝子マーカーに関する研究","en":"Research on the diagnosis, treatment, and biomarkers for severe cutaneous adverse reactions"},"periodStart":"2023-02-10","periodEnd":"2026-03-02","datasets":["JGAD000529","JGAD000660"]},{"principalInvestigator":{"ja":"福永 航也","en":"Koya Fukunaga"},"affiliation":{"ja":"医薬安全科学部, 国立医薬品食品衛生研究所","en":"Medical safety science, National institute of health sciences"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"薬剤性間質性肺疾患の発症に関連するバイオマーカーの探索研究","en":"Research on the biomarkers associated with drug-induced interstitial pneumonia"},"periodStart":"2023-02-10","periodEnd":"2026-03-02","datasets":["JGAD000529","JGAD000660"]},{"principalInvestigator":{"ja":"福永 航也","en":"Koya Fukunaga"},"affiliation":{"ja":"医薬安全科学部, 国立医薬品食品衛生研究所","en":"Medical safety science, National institute of health sciences"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"薬物性肝障害の発症に関連するバイオマーカーの探索研究\r\n","en":"Research on the biomarkers associated with drug-induced liver injury\r\n"},"periodStart":"2023-02-10","periodEnd":"2024-04-02","datasets":["JGAD000529","JGAD000660"]},{"principalInvestigator":{"ja":"福永 航也","en":"Koya Fukunaga"},"affiliation":{"ja":"医薬安全科学部, 国立医薬品食品衛生研究所","en":"Medical safety science, National institute of health sciences"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"横紋筋融解症の発症に関連するバイオマーカーの探索研究","en":"Research on the biomarkers associated with drug-induced myopathy\r\n"},"periodStart":"2023-02-10","periodEnd":"2026-03-02","datasets":["JGAD000529","JGAD000660"]},{"principalInvestigator":{"ja":"上辻󠄀 茂男","en":"Shigeo Kamitsuji"},"affiliation":{"ja":"統計解析事業部, 株式会社スタージェン","en":"Statistical Analysis Division, StaGen Co., Ltd."},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"斜視の遺伝的要因の検証のためのゲノムワイド関連研究","en":"Genome-Wide Association Study to identify genetic factors for strabismus in Japanese population"},"periodStart":"2023-02-14","periodEnd":"2027-02-28","datasets":["JGAD000529"]},{"principalInvestigator":{"ja":"高地 雄太","en":"Yuta Kochi"},"affiliation":{"ja":"難治疾患研究所ゲノム機能多様性分野, 東京医科歯科大学","en":"Department of Genomic Function and Diversity, Medical Research Institute, Tokyo Medical and Dental University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"機能性遺伝子多型の網羅的解析を介した多因子疾患の病態解明","en":"Genetic study of complex diseases through comprehensive analysis of functional genetic variations"},"periodStart":"2023-04-12","periodEnd":"2028-03-31","datasets":["JGAD000660"]},{"principalInvestigator":{"ja":"加藤 正樹","en":"Masaki Kato"},"affiliation":{"ja":"精神神経科, 関西医科大学"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"精神疾患個別化治療アルゴリズムの構築を目的とする生物学的反応因子の探索・検証試験","en":"Exploratory and validation study of genetic and biological factors for the development of precision medicine algorithms for psychiatric disorders.\r\n"},"periodStart":"2023-08-25","periodEnd":"2028-06-30","datasets":["JGAD000529"]},{"principalInvestigator":{"ja":"木村 大樹","en":"Hiroki Kimura"},"affiliation":{"ja":"精神医学分野, 名古屋大学大学院医学系研究科","en":"Department of Psychiatry, Nagoya University Graduate school of medicine"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"遺伝子解析による脳とこころの病気に対するかかりやすさ（発症脆弱性）や薬の効きめや副作用（治療反応性）等の解明に関する研究","en":"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"},"periodStart":"2023-11-17","periodEnd":"2028-10-28","datasets":["JGAD000529"]},{"principalInvestigator":{"ja":"朝野 仁裕","en":"Yoshihiro Asano"},"affiliation":{"ja":"ゲノム医療支援部, 国立循環器病研究センター","en":"Dept. of Genomic Medicine, National Cerebral and Cardiovascular Center"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"循環器疾患におけるゲノム医療推進のための全国規模プラットフォームの構築","en":"Nationwide Platform for the Promotion of Genomic Medicine in Cardiovascular Diseases"},"periodStart":"2023-12-14","periodEnd":"2035-03-31","datasets":["JGAD000529"]},{"principalInvestigator":{"ja":"寺尾 知可史","en":"Chikashi Terao"},"affiliation":{"ja":"ゲノム解析応用研究チーム, 理化学研究所生命医学研究センター","en":"Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"ゲノミクス情報を基盤とした個別化医療の研究","en":"Research on personalized medicine based on genomics information"},"periodStart":"2023-11-21","periodEnd":"2026-07-10","datasets":["JGAD000529"]},{"principalInvestigator":{"ja":"岡本 師","en":"Tsukasa Okamoto"},"affiliation":{"ja":"長寿・健康人生推進センター, 東京医科歯科大学","en":"The Center for Personilized Medicine for Healthy Aging, Tokyo Medical and Dental University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"間質性肺炎の原因あるいは関連遺伝子解析に関する前向き研究","en":"Prospective study on analysis of genes causing or related to interstitial pneumonia"},"periodStart":"2024-04-12","periodEnd":"2027-03-31","datasets":["JGAD000529","JGAD000660"]},{"principalInvestigator":{"ja":"寺尾 知可史","en":"Chikashi Terao"},"affiliation":{"ja":"臨床研究部　免疫研究部, 静岡県立総合病院","en":"Immunology Research, Clinical Research Center, Shizuoka General Hospital"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"ヒト形質関連遺伝因子に関する研究","en":"Investigation of Genetic Factors Associated with Human Phenotypic Traits"},"periodStart":"2024-04-25","periodEnd":"2028-12-03","datasets":["JGAD000529","JGAD000660","JGAD000683"]},{"principalInvestigator":{"ja":"長﨑 正朗","en":"Masao Nagasaki"},"affiliation":{"ja":"生体防御医学研究所附属高深度オミクスサイエンスセンターバイオメディカル情報解析分野, 九州大学","en":"Division of Biomedical Information Analysis, Medical Research Center for High Depth Omics, Medical Institute of Bioregulation, Kyushu University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"日本人大規模全ゲノム情報を基盤とした多因子疾患関連遺伝子の同定を加速する情報解析技術の開発と応用（ゲノム情報解析技術開発）","en":"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"},"periodStart":"2024-06-24","periodEnd":"2027-03-31","datasets":["JGAD000529"]},{"principalInvestigator":{"ja":"野口 恵美子","en":"Emiko Noguchi"},"affiliation":{"ja":"医学医療系遺伝医学, 筑波大学","en":"Department of Medical Genetics, Faculty of Medicine, University of Tsukuba"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"小麦依存性運動誘発アナフィラキシーの原因遺伝子解析とそれに対応する小麦品種の探索","en":"Genome wide association study for WDEIA and exploration of wheat products"},"periodStart":"2024-05-09","periodEnd":"2028-03-31","datasets":["JGAD000529"]},{"principalInvestigator":{"ja":"加藤 規弘","en":"Norihiro Kato"},"affiliation":{"ja":"遺伝子診断治療開発研究部, 国立国際医療研究センター","en":"Gene Diagnostics and Therapeutics, National Center for Global Health and Medicine"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"原発性アルドステロン症の遺伝素因とその臨床的意義に関する研究","en":"Study of genetic predisposition of primary aldosteronism and its clinical significance"},"periodStart":"2024-06-24","periodEnd":"2029-03-31","datasets":["JGAD000529"]},{"principalInvestigator":{"ja":"白石 航也","en":"Kouya Shiraishi"},"affiliation":{"ja":"臨床ゲノム解析部門, 国立がん研究センター研究所","en":"Department of Clinical Genomics, National Cancer Center Research Institute"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"肺がんの個別化予防に資する遺伝要因の同定を目指す研究","en":"Search for genes involved in susceptibility to lung cancer"},"periodStart":"2024-06-24","periodEnd":"2025-12-15","datasets":["JGAD000529"]},{"principalInvestigator":{"ja":"莚田 泰誠","en":"Taisei Mushiroda"},"affiliation":{"ja":"ファーマコゲノミクス研究チーム, 理化学研究所　生命医科学研究センター","en":"Laboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"薬疹関連遺伝子の探索","en":"Search of genomic biomarkers associated with drug-induced eruptions"},"periodStart":"2024-08-01","periodEnd":"2028-03-31","datasets":["JGAD000529","JGAD000660"]},{"principalInvestigator":{"ja":"大野 敦司","en":"Atsushi Ono"},"affiliation":{"ja":"大学院 医系科学研究科 消化器内科学, 広島大学","en":"Hiroshima University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"肝疾患の課題解決にむけたゲノム情報の活用","en":"Utilizing Genomic Information to Address Challenges in Liver Diseases"},"periodStart":"2025-06-25","periodEnd":"2034-03-31","datasets":["JGAD000529"]},{"principalInvestigator":{"ja":"木村 亮介","en":"Ryosuke Kimura"},"affiliation":{"ja":"大学院医学研究科人体解剖学講座, 琉球大学","en":"Department of Human Biology and Anatomy, Graduate School of Medicine, University of the Ryukyus"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"ヒト全ゲノム配列基盤情報の整備および集団遺伝学・分子進化学解析","en":"Construction of a human genome reference dataset and its application to population genetics and molecular evolutionary analyses"},"periodStart":"2025-09-17","periodEnd":"2028-03-31","datasets":["JGAD000529","JGAD000927"]},{"principalInvestigator":{"ja":"徳永 勝士","en":"Katsushi Tokunaga"},"affiliation":{"ja":"ゲノム医科学プロジェクト, 国立健康危機管理研究機構　国立国際医療研究所","en":"Genome Medical Science Project, Japan Institute for Health Security, National Institute of Global Health and Medicine"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"日本人大規模全ゲノム情報を基盤とした多因子疾患関連遺伝子の同定を加速する情報解析技術の開発と応用","en":"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"},"periodStart":"2026-07-10","periodEnd":"2027-03-31","datasets":["JGAD000529","JGAD000683","JGAD000927"]},{"principalInvestigator":{"ja":"堀江 重郎","en":"Shigeo Horie"},"affiliation":{"ja":"泌尿器外科学, 順天堂大学大学院医学研究科","en":"Department of Urology, Juntendo University, Graduate School of Medicine"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"プロテオミクスデータとメタボロミクスデータを用いた生物学的年齢モデルの検証","en":"Validation of Biological Age Models Using Proteomics and Metabolomics Data"},"periodStart":"2025-11-13","periodEnd":"2030-03-31","datasets":["JGAD000683","JGAD000927"]},{"principalInvestigator":{"ja":"寺尾 知可史","en":"Chikashi Terao"},"affiliation":{"ja":"研究推進本部　ゲノミクス医学センター, 藤田医科大学","en":"Center for Genomic Medicine, Research Promotion Headquarters, Fujita Health University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"統合ゲノミクス情報を基盤とした個別化医療の研究","en":"Research on Personalized Medicine Leveraging Integrated Genomic Data"},"periodStart":"2026-09-03","periodEnd":"2036-03-31","datasets":["JGAD000529","JGAD000660","JGAD000683","JGAD000927"]}]}