{"total":405,"page":1,"pageCount":21,"query":"","hits":[{"id":"hum0335","version":2,"url":"https://humandbs.dbcls.jp/research/hum0335/v2","datePublished":"2026-10-01","versions":[{"version":1,"datePublished":"2022-09-14"},{"version":2,"datePublished":"2026-10-01"}],"title":{"ja":"遺伝子解析と免疫形質を組み合わせたリンパ増殖性疾患の新たな診断と臨床像の調査研究","en":"Research on new diagnosis and clinical picture of lymphoproliferative diseases by combining genetic analysis and immunological traits"},"summary":{"aims":{"ja":"急性リンパ性白血病、悪性リンパ腫、慢性リンパ性白血病、多発性骨髄腫などを含むリンパ増殖性疾患は、典型例を除きその診断は病理学的にも困難なことは稀ではなく、染色体分析や免疫形質、遺伝子異常を加味した診断が以前から行われている。近年の遺伝子異常に関する網羅的解析や免疫学的研究の進歩から、診断に結びつく新たな異常や特徴が続々と報告されているが、実臨床における診断はそうした変化に追いついていないのが現状である。現在リンパ増殖性疾患の診断は、2017年に発表されたWHO分類に基づいて行われているが、その中にもすでに実臨床の中に取り入れることができていない遺伝子検査や免疫形質の検査が多く盛り込まれている。そこで通常診療で行われていない遺伝子変異を網羅的に解析し、免疫形質の分析を行うことで得られた新たな診断と現状の病理診断における生命予後を含めた臨床像を比較検討する。","en":"Diagnosis of lymphoproliferative diseases, except for typical cases, is often pathologically difficult, and diagnosis has long been based on chromosome analysis, immunological traits, and genetic abnormalities. Recent advances in the comprehensive analysis of genetic abnormalities and immunological studies have led to a number of reports of new abnormalities and features that can lead to diagnosis, but diagnosis in clinical practice has not kept pace with these changes. In this study, we compared the clinical picture, including prognosis, of the current pathological diagnosis with that of a new diagnosis based on comprehensive analysis of genetic mutations and immunological traits that have not yet been incorporated into conventional clinical practice."},"methods":{"ja":"【Target capture】ARID1A、NOTCH2、CXCR4、MYD88、PRDM1、CD274、PDCD1LG2、RAG2、KMT2D、MYBBP1A、TP53、CD79B のコーディング領域をカバーするプライマーを作成し、次世代シーケンサー（NextSeq 500）を使用したターゲットシーケンスを行った。GRCh37/hg19に基づいてアノテーションを行った後、以下の条件に該当する変異を除外した。Read Depth<500、Alt Variant Freq<5%（MYD88 L265Pは<1%）、global freq>1%または1000 Genomes ProjectにおいてEast Asian pop freq>1%、synonymous mutations、inflame mutations、SIFTが\"tolerated\"またはPolyPhenが\"benign\"のmissense mutations\n【whole exome sequencing】Agilent SureSelect Human All Exon V6 を用い、Agilent SureSelect Target Enrichment Systemのプロトコールに従ってライブラリーを作成。NovaSeq 6000（Illumina）を用いてwhole exome sequencing解析を実施した。","en":"[Target capture] We created primers covering the coding regions of ARID1A, NOTCH2, CXCR4, MYD88, PRDM1, CD274, PDCD1LG2, RAG2, KMT2D, MYBBP1A, TP53, and CD79B and performed targeted sequencing using the NextSeq 500 next-generation sequencer. After annotation based on GRCh37/hg19, mutations that met the following criteria were filtered out: Read Depth < 500, Alt Variant Freq < 5% (< 1% on MYD88 L265P), global frequency > 1% or East Asian pop frequency > 1% based on 1000 Genomes Project, synonymous mutations, inflame mutations, and missense mutations scored \"tolerated\" by SIFT or \"benign\" by PolyPhen.\n[Whole exome sequencing] Library was made according to Agilent SureSelect Target Enrichment System protocol."},"targets":{"ja":"【Target capture】原発性マクログロブリン血症（Waldenström macroglobulinemia：WM）10症例およびnon IgM-typeリンパ形質細胞性リンパ腫 （lymphoplasmacytic lymphoma：LPL）10症例の各種検体から抽出したDNA\n【whole exome sequencing】リンパ増殖性疾患の１型（T-LGL（Large Granular Lymphocytic Leukemia）とその形質転換と推察されるが、病理診断が困難なT細胞腫瘍）の骨髄細胞（形質転換した腫瘍）から抽出したDNA","en":"[Target capture] DNAs extracted from specimens from 10 cases of Waldenström macroglobulinemia and 10 cases of non IgM-type lymphoplasmacytic lymphoma (LPL)\n[Whole exome sequencing] DNAs extracted from bone marrow cells (after transformation) of one patient with T cell lymphoproliferative disease (probably diagnosis is a transformation case from T-LGL (Large Granular Lymphocytic Leukemia), though we don't have definitive diagnosis for both indolent disease and aggressive disease of transformation."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"原発性マクログロブリン血症：10症例\nnon IgM-type リンパ形質細胞性リンパ腫：10症例\nリンパ増殖性疾患：1症例\n（日本人）","en":"Waldenström macroglobulinemia: 10 cases\nnon IgM-type lymphoplasmacytic lymphoma: 10 cases\nT cell lymphoproliferative disease: 1 case\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture、Exome）","en":"NGS\n(Target Capture, Exome)"}},"releaseNote":{"ja":"リンパ増殖性疾患1症例の骨髄細胞から抽出したDNAを用いたwhole exome sequencing解析データをfastqファイルにて提供する。","en":"DNAs extracted from 1 case of T cell lymphoproliferative disease were used for whole exome sequencing analysis using the NovaSeq 6000 next generation sequencer. Fastq files are provided."},"dataProviders":[{"name":{"ja":"横濱 章彦","en":"Akihiko Yokohama"},"organization":{"name":{"ja":"群馬大学医学部附属病院 輸血部","en":"Division of Blood Transfusion Service, Gunma University"}}}],"researchProjects":[{"name":{"ja":null,"en":null},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"悪性リンパ腫におけるアミノ酸トランスポーターの解析と治療への応用","en":"Amino acid transporter in malignant lymphoma; its analysis and clinical application"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["16K10342"]}],"relatedPublications":[{"title":"Waldenström Macroglobulinemia and Non-IgM-Type Lymphoplasmacytic Lymphoma Are Genetically Similar","doi":"https://doi.org/10.1159/000530100","datasets":["DRA014819"]},{"title":"Felty Syndrome–Associated Clonal Cytotoxic T-Cell Disease With Terminal Aggressive Progression: Shared STAT3 and TET2 Mutations Across a Prolonged Disease Course","doi":"https://doi.org/10.1002/jha2.70406","datasets":["JGAD001060"]}],"datasets":["DRA014819","JGAD001060"],"controlledAccessUsers":[]},{"id":"hum0607","version":1,"url":"https://humandbs.dbcls.jp/research/hum0607/v1","datePublished":"2026-10-01","versions":[{"version":1,"datePublished":"2026-10-01"}],"title":{"ja":"「ALK遺伝子異常を有する希少がんに対するアレクチニブの医師主導治験」に附随するバイオマーカーの探索研究","en":"Exploratory Biomarker Study Associated with the Investigator-Initiated Clinical Trial of Alectinib for Rare Cancers Harboring ALK Alterations"},"summary":{"aims":{"ja":"ALK遺伝子異常を有する希少がんに対するアレクチニブの医師主導治験に登録され、アレクチニブ治療が行われた症例において、治験治療前後に採取された検体（腫瘍組織と末梢血）や末梢血循環腫瘍細胞 (Circulating Tumor Cell：CTC) のオミクス解析等を行い、アレクチニブ治療の臨床効果と関連するバイオマーカーを同定する。","en":"To identify biomarkers associated with the clinical efficacy of alectinib treatment by performing omics analyses of specimens, including tumor tissue and peripheral blood samples collected before and after investigational treatment, as well as circulating tumor cells (CTCs), from patients with rare cancers harboring ALK gene alterations who were enrolled in an investigator-initiated clinical trial of alectinib and received alectinib treatment."},"methods":{"ja":"Target Capture Sequencing解析","en":"Target sequencing"},"targets":{"ja":"アレクチニブの医師主導治験に登録されたALK遺伝子異常を有する希少がん24症例の血漿中cell free DNA 24検体、内19症例のバフィーコートより抽出したDNA 19検体","en":"cfDNA in 24 plasma samples obtained from 24 patients enrolled in an investigator-initiated clinical trial of alectinib for rare cancers harboring ALK alterations, and gDNA extracted from buffy coats from 19 of these patients."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"ALK遺伝子異常を有する希少癌：24症例\n（日本人）","en":"Rare cancers harboring ALK alterations: 24 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target capture）","en":"NGS\n(Target capture)"}},"releaseNote":{"ja":"ALK遺伝子異常を有する希少がん24症例の血漿中cfDNA 24検体およびバフィーコートより抽出したDNA 19検体を用いた737個のがん関連遺伝子のTarget Capture Sequencing解析データをbamファイルにて提供する。","en":"Cell-free DNA in 24 plasma samples from 24 rare cancers harboring ALK alterations and DNA extracted from buffy coat samples from 19 of these patients were used for the target capture sequencing analysis about 737 genes related to cancer. Bam files are provided."},"dataProviders":[{"name":{"ja":"高阪 真路","en":"Shinji Kohsaka"},"organization":{"name":{"ja":"国立がん研究センター 研究所細胞情報学分野","en":"Division of Cellular Signaling, National Cancer Center Research Institute"}}}],"researchProjects":[{"name":{"ja":"TACKLE試験附随研究","en":"TACKLE trial translational research"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"先端技術を用いたクリニカルシークエンスの開発と稼働性・臨床的有用性の検証研究","en":"Development of Clinical Sequencing Using Advanced Technologies and Validation of Its Feasibility and Clinical Utility"},"agency":{"ja":"がんセンター研究開発費","en":"NCC Research Grant"},"grantIds":["2025-A-04"]}],"relatedPublications":[{"title":"Efficacy and Safety of Alectinib in Pediatric and Adult Patients with ALK-Altered Advanced Solid Tumors: a phase II TACKLE Trial (NCCH1712/MK003)","datasets":["JGAD001104"]}],"datasets":["JGAD001104"],"controlledAccessUsers":[]},{"id":"hum0511","version":2,"url":"https://humandbs.dbcls.jp/research/hum0511/v2","datePublished":"2026-09-18","versions":[{"version":1,"datePublished":"2026-07-30"},{"version":2,"datePublished":"2026-09-18"}],"title":{"ja":"百寿者サンプルを用いた老化における分子マーカーの探索と分子基盤の解明","en":"Identification of Molecular Markers and Elucidation of Molecular Mechanisms in Aging Using Centenarian Samples"},"summary":{"aims":{"ja":"百寿者、百寿者の家族、及び対照群について、血液中に含まれるRNA全体および1細胞毎のRNAを解析し、老化に伴って増加・減少する分子マーカー、ならびに百寿者に特異的に存在するRNA分子の同定を行う。加えて、免疫の司令塔であるT細胞が老化によって変化する分子メカニズムを明らかにする。","en":"The purpose of this study is to analyze the total RNA in blood and single-cell RNA from centenarians, their family members, and control groups, with the aim of identifying molecular markers that increase or decrease with aging, as well as RNA molecules specific to centenarians. Additionally, the study seeks to elucidate the molecular mechanisms by which T cells, the central regulators of the immune system, change during aging."},"methods":{"ja":"scRNA-seq解析、16種類の細胞表面蛋白質発現（scCITE-seq）解析、TCRα/β鎖CDR3領域の配列（シングルセルレパトア）解析、bulk RNA-seq解析","en":"scRNA-seq, Expression data of 16 cell surface proteins (scCITE-seq), CDR3 sequences of T-cell receptor alpha and beta chains (scTCR-seq), bulk RNA-seq"},"targets":{"ja":"データセット1：健常者28名（70～90歳代：8名、100歳代：10名、110歳代：10名）のT細胞\nデータセット2：上記のうち6名（70～90歳代：2名、100歳代：2名、110歳代：2名）のT細胞（Phorbol 12-myristate 13-acetate [PMA]とイオノマイシンで6時間刺激）","en":"Dataset 1: T cells from 28 healthy individuals\nDataset 2: T cells from 6 healthy individuals stimulated for 6 hours with Phorbol 12-myristate 13-acetate (PMA) and ionomycin"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"健常者：28名\n（日本人）","en":"28 healthy individuals\n(Japanese)"},"typeOfData":{"ja":"NGS\n（scRNA-seq、scTCR-seq、scCITE-seq、bulk RNA-seq）","en":"NGS\n(scRNA-seq, scTCR-seq, scCITE-seq, bulk RNA-seq)"}},"releaseNote":{"ja":"健常者1名の末梢血T細胞から抽出したRNAを用いたbulk RNA-seqデータをfastqファイル形式で提供する。","en":"RNAs extracted from CD4⁺CD27⁻CD28⁻ T cells and CD4⁺CD45RO⁺CD28⁺ T cells isolated from 1 healthy individual were used for bulk RNA-seq analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"橋本 浩介","en":"Kosuke Hashimoto"},"organization":{"name":{"ja":"大阪大学 蛋白質研究所","en":"Institute for Protein Research, The University of Osaka"}}}],"researchProjects":[],"grants":[{"title":{"ja":"老化後期におけるCD4キラーT細胞の増加プロセスの解明","en":"Elucidation of the Expansion Mechanism of Cytotoxic CD4 T Cells During Late-Stage Aging"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["21K06135"]},{"title":{"ja":"長寿者のT細胞が保有する抗原記憶の解明","en":"Elucidation of Antigenic Memory in T Cells from Long-Lived Individuals"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["24K09423"]}],"relatedPublications":[{"title":"CD4 CTLs in Supercentenarians: Signs of Adaptive Expansion in Healthy Aging","doi":"https://doi.org/10.1016/j.celrep.2026.117728","datasets":["JGAD000957","E-GEAD-1107","E-GEAD-1108"]}],"datasets":["JGAD000957","E-GEAD-1107","E-GEAD-1108"],"controlledAccessUsers":[]},{"id":"hum0567","version":1,"url":"https://humandbs.dbcls.jp/research/hum0567/v1","datePublished":"2026-09-18","versions":[{"version":1,"datePublished":"2026-09-18"}],"title":{"ja":"希少疾患（Fontan術後肝障害を含む）を背景として生じた肝がんの病態解明を目指したマルチオミクス解析","en":"The mutiomics analysis on liver tumor with rare liver diseases, including Fontan associated liver diseases"},"summary":{"aims":{"ja":"肝がんはそのほとんどがウイルス、薬物、代謝性疾患に関連した慢性肝障害を背景として発生する。慢性肝障害を呈するWilson病やヘモクロマトーシスなどの先天性代謝性疾患による肝がん発症例も稀ながら存在する。このような希少疾患を背景とする慢性肝障害の中で、Fontan術後の肝臓合併症（Fontan associated liver disease：FALD）が増加している。そこで、FALD症例をはじめとして、希少疾患を背景とする肝障害から発症する肝がんを対象に、臨床試料を用いた病因病態の解明や予後の向上のために必要な治療法をめざしたマルチオミクス解析をおこなう。","en":"Most liver cancers develop because of long-term liver disease caused by viruses, drugs, or metabolic disorders. The rare diseases, including Wilson's disease and hemochromatosis also develop liver cancer. Fontan-associated liver disease (FALD) is one of rare diseases and is increasing. Therefore, we conducted a multi-omics analysis targeting liver cancer arising from liver damage caused by rare diseases, especially FALD. This aims to elucidate the causes and development of the disease and establish treatments to improve the prognosis of patients."},"methods":{"ja":"Whole-genome sequencing、RNA sequencing","en":"whole-genome sequencing, RNA sequencing"},"targets":{"ja":"稀な肝希少疾患、特にFALDを背景に発症した肝がん","en":"liver cancer caused by rare liver diseases, especially FALD"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing; Expression profiling"},"targets":{"ja":"肝希少疾患を背景に発症した肝癌：13症例\n（日本人）","en":"liver cancer caused by rare liver diseases: 13 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS、RNA-seq）","en":"NGS\n(WGS, RNA-seq)"}},"releaseNote":{"ja":"肝希少疾患、特にFontan術後の肝臓合併症（Fontan associated liver disease：FALD）を背景に発症した肝がん13症例の腫瘍組織ならびに非腫瘍肝組織から抽出したDNA/RNAを用いたwhole-genome sequencing解析データならびにRNA sequencing解析データをfastq、vcf、csvファイルにて提供する。","en":"DNAs/RNAs extracted from tumor and non-tumor tissues obtained from patients with liver cancer caused by rare liver diseases, especially Fontan-associated liver disease were used for the whole-genome sequencing and RNA sequencing analyses. Fastq, vcf and csv files are provided."},"dataProviders":[{"name":{"ja":"考藤 達哉","en":"Tatsuya Kanto"},"organization":{"name":{"ja":"国立健康危機管理研究機構 国立国際医療研究所 肝炎・免疫研究センター 肝疾患研究部","en":"Department of Liver Diseases, The Research Center for Hepatitis and Immunology, National Institute of Global Health and Medicine, Japan Institute for Health Security"}}}],"researchProjects":[],"grants":[{"title":{"ja":"FALD（Fontan術後肝臓合併症）の疫学調査・レジストリ拡充と病態解明に基づく診療ガイドライン作成に資する研究","en":"Epidemiological and mechanistic studies of FALD for clinical guideline"},"agency":{"ja":"国立国際医療研究センター 国立国際医療研究開発費","en":"Grant-in-Aid for Research, National Center for Global Health and Medicine"},"grantIds":["22A2001","24A2001"]}],"relatedPublications":[{"title":"Genomic and transcriptomic profiling of hepatocellular carcinoma in patients with Fontan-associated liver disease","doi":"https://doi.org/10.1097/HEP.0000000000001693","datasets":["JGAD001048"]}],"datasets":["JGAD001048"],"controlledAccessUsers":[]},{"id":"hum0600","version":1,"url":"https://humandbs.dbcls.jp/research/hum0600/v1","datePublished":"2026-09-17","versions":[{"version":1,"datePublished":"2026-09-17"}],"title":{"ja":"シングルセル遺伝子発現解析による進行性甲状腺癌の分子機構の解明","en":"Elucidation of the Molecular Mechanisms of Advanced Thyroid Cancer through Single-Cell Gene Expression Analysis"},"summary":{"aims":{"ja":"進行性甲状腺がん（甲状腺未分化がん、甲状腺低分化がん、進行・再発甲状腺分化がん）よりシングルセル遺伝子発現解析を行い、甲状腺がんの悪性化・未分化転化に関与する遺伝子を検索し、またがん微小環境を構築する細胞群の特徴を解析する。","en":"We will perform single-cell gene expression analysis on advanced thyroid cancer (undifferentiated thyroid carcinoma, poorly differentiated thyroid carcinoma, and advanced or recurrent differentiated thyroid carcinoma) to identify genes involved in the malignant transformation and dedifferentiation of thyroid cancer, and to analyze the characteristics of cell populations that constitute the tumor microenvironment."},"methods":{"ja":"scRNA-seq","en":"scRNA-seq"},"targets":{"ja":"甲状腺未分化がん 3症例、甲状腺乳頭がん 3症例","en":"undifferentiated thyroid carcinoma: 3 cases, papillary thyroid carcinoma: 3 cases"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"甲状腺未分化癌：3症例\n甲状腺乳頭癌：3症例\n（日本人）","en":"undifferentiated thyroid carcinoma: 3 cases\npapillary thyroid carcinoma: 3 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（scRNA-seq）","en":"NGS\n(scRNA-seq)"}},"releaseNote":{"ja":"甲状腺未分化がん3症例および甲状腺乳頭がん3症例の腫瘍組織より単離した細胞からRNAを抽出し、scRNA-seq解析を実施した。fastqデータならびに発現マトリクスデータ（h5）を提供する。","en":"RNA extracted from a single cell isolated from tumor tissues collected from 3 patients with undifferentiated thyroid carcinoma and 3 patients with papillary thyroid carcinoma were used for scRNA-seq analysis. Fastq data and expression matrix data (h5) are provided."},"dataProviders":[{"name":{"ja":"井口 研子","en":"Akiko Iguchi"},"organization":{"name":{"ja":"筑波大学 医学医療系 乳腺内分泌外科学分野","en":"Department of Breast and Endocrine Surgery, Institute of Medicine, University of Tsukuba"}}}],"researchProjects":[],"grants":[{"title":{"ja":"甲状腺未分化癌に対する新規免疫療法の開発のための研究","en":"Research for the development of novel immunotherapy for anaplastic thyroid carcinoma"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["JP20K08950"]}],"relatedPublications":[{"title":"Single-cell Transcriptome of Anaplastic Thyroid Cancer Reveals Immunosuppressive Tumor Microenvironment Remodeling","doi":"https://doi.org/10.1002/cam4.72261","datasets":["JGAD001086","E-GEAD-1308"]}],"datasets":["JGAD001086","E-GEAD-1308"],"controlledAccessUsers":[]},{"id":"hum0513","version":1,"url":"https://humandbs.dbcls.jp/research/hum0513/v1","datePublished":"2026-09-08","versions":[{"version":1,"datePublished":"2026-09-08"}],"title":{"ja":"COVID-19ワクチン接種対象者における免疫応答の解析","en":"Immune profiling study of COVID-19 vaccine recipients"},"summary":{"aims":{"ja":"日本で承認済みのCOVID-19ワクチン接種対象者の抗体や免疫細胞を網羅的に解析し、ワクチンの効果や副反応および有害事象と相関する因子を同定すること。","en":"To comprehensively analyze antibodies and immune cells in individuals who received approved COVID-19 vaccines in Japan and to identify factors correlated with vaccine efficacy, adverse reactions, and adverse events."},"methods":{"ja":"scRNA-seq、scTCR-seq","en":"scRNA-seq, scTCR-seq"},"targets":{"ja":"COVID-19ワクチン接種者（健常人）14名","en":"14 Healthy donors who received COVID-19 vaccines"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"COVID-19ワクチン接種者（健常人）：14名\n（日本人）","en":"14 healthy donors who received COVID-19 vaccines\n(Japanese)"},"typeOfData":{"ja":"NGS\n（scRNA-seq、scTCR-seq）","en":"NGS\n(scRNA-seq, scTCR-seq)"}},"releaseNote":{"ja":"COVID-19ワクチン接種者（健常人）14名のワクチン3回目接種から1年後に採血した末梢血単核球（PBMC）を用いたscRNA-seqおよびscTCR-seq解析データをfastq、bam、h5、json、csvファイル形式で提供する。","en":"PBMCs isolated from peripheral blood of 14 healthy donors who received COVID-19 vaccines were used for scRNA-seq and scTCR-seq analyses. Fastq, bam, h5, json and csv files are provided."},"dataProviders":[{"name":{"ja":"高橋 宜聖","en":"Yoshimasa Takahashi"},"organization":{"name":{"ja":"国立感染症研究所 治療薬・ワクチン開発研究センター","en":"Research Center for Drug and Vaccine Development, National Institute of Infectious Diseases"}}}],"researchProjects":[],"grants":[{"title":{"ja":"ウイルス免疫逃避に対抗する液性免疫記憶の進化機序の解明","en":"Evolution of humoral immune memory for resisting viral escape"},"agency":{"ja":"日本医療研究開発機構 革新的先端研究開発支援事業 ユニットタイプ（AMED-CREST）","en":"Core Research and Evolutional Science and Technology, Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED-CREST)"},"grantIds":["JP23gm1810004"]}],"relatedPublications":[{"title":"Antibody durability is influenced by interleukin-2 production by undifferentiated memory T helper cells and extensive B cell clonal expansion","doi":"https://doi.org/10.1016/j.celrep.2025.115934","datasets":["JGAD000937"]}],"datasets":["JGAD000937"],"controlledAccessUsers":[]},{"id":"hum0585","version":1,"url":"https://humandbs.dbcls.jp/research/hum0585/v1","datePublished":"2026-08-28","versions":[{"version":1,"datePublished":"2026-08-28"}],"title":{"ja":"ヒト4倍体iPS細胞からの増殖期後心筋細胞の作製","en":"Derivation of human post-mitotic cardiomyocytes from tetraploid iPSCs"},"summary":{"aims":{"ja":"iPS細胞に心筋症に関わる遺伝子変異をゲノム編集により導入後、心筋細胞へと分化誘導した心筋症のモデルを作製し、心筋症の発症機序を探る。複数人から樹立されたiPS細胞を用いることで、遺伝的背景の影響も検討する。","en":"Using genome editing, we introduced mutations in genes associated with cardiomyopathy into iPS cells to model cardiomyopathy. We also tested iPS cells established from multiple individuals."},"methods":{"ja":"RNA-seq解析","en":"RNA-seq"},"targets":{"ja":"米国Gladstone研究所で樹立された、健常者由来iPS細胞（WTC11）、および心筋細胞に分化誘導した細胞、WTC11同士を融合させて樹立した4倍体iPS細胞、および当該4倍体iPS細胞を心筋細胞に分化誘導した細胞","en":"WTC11, an iPS cell line derived from a healthy individual, established at the Gladstone Institutes in its undifferentiated state and after differentiation into cardiomyocytes. The undifferentiated state and after differentiation into cardiomyocytes of tetraploid iPS cells established by fusing WTC11 cells."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"未分化iPS細胞および分化誘導した心筋細胞：12検体\n（細胞株）","en":"undifferentiated iPS cells and differentiated cardiomyocytes: 12 samples\n(Cell-line)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"健常者由来iPS細胞（WTC11）および分化誘導した心筋細胞、ならびに、 WTC11同士の細胞融合により樹立した4倍体iPS細胞および分化誘導した心筋細胞から抽出したRNAを用いたRNA-seq解析データをfastqファイル形式で提供する。","en":"RNAs extracted from undifferentiated iPS cells and differentiated cardiomyocytes of WTC11 and tetraploid iPS cells established by fusing WTC11 cells were used for the RNA sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"宮岡 佑一郎","en":"Yuichiro Miyaoka"},"organization":{"name":{"ja":"東京都医学総合研究所","en":"Tokyo Metropolitan Institute of Medical Science"}}}],"researchProjects":[{"name":{"ja":"再生医療プロジェクト","en":"Regenerative Medicine Project"},"url":{"ja":[{"url":"https://www.igakuken-regmed.com/","text":"https://www.igakuken-regmed.com/"}],"en":[{"url":"https://www.igakuken-regmed.com/home","text":"https://www.igakuken-regmed.com/home"}]}}],"grants":[{"title":{"ja":"細胞種により異なる倍数性の意義をiPS細胞モデルにより追究する","en":"Elucidating the Significance of Cell Type-Specific Ploidy Using iPSC Models"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["24K02028"]},{"title":{"ja":"マウスの交配のように自在なヒトiPS細胞間の遺伝子交換手法の開発","en":"Flexible gene exchange method between human iPS cell lines like mouse breeding"},"agency":{"ja":"科学研究費助成事業 挑戦的研究（萌芽）","en":"KAKENHI Grant-in-Aid for Challenging Research (Exploratory)"},"grantIds":["24K21954"]},{"title":{"ja":"心筋細胞の4倍体化を忠実に再現するiPS細胞心筋症モデルの開発","en":"iPSC-Derived Cardiomyocyte Model That Faithfully Recapitulates Cardiomyocyte Tetraploidization"},"agency":{"ja":"循環器病研究振興財団 バイエル循環器病研究助成","en":"Japan Cardiovascular Research Foundation, The Bayer Scholarship for Cardiovascular Research"},"grantIds":null},{"title":{"ja":"生体心臓を真に再現する4倍体iPS細胞由来心筋細胞モデルの確立","en":"Tetraploid iPSC-Derived Cardiomyocyte Model That Faithfully Recapitulates the In Vivo Heart"},"agency":{"ja":"先進医薬研究振興財団 循環医学分野 一般研究助成","en":"SENSHIN Medical Research Foundation"},"grantIds":null},{"title":{"ja":"4倍体化を再現する iPS 細胞由来心筋細胞による再生医療の革新","en":"Transforming Regenerative Medicine Using iPSC-Derived Cardiomyocytes That Recapitulate"},"agency":{"ja":"テルモ生命科学振興財団 再生医療研究助成","en":"TERUMO Life Science Foundation"},"grantIds":null}],"relatedPublications":[{"title":"Derivation of human post-mitotic cardiomyocytes from tetraploid iPSCs","doi":"https://doi.org/10.1038/s42003-026-10763-2","datasets":["DRA029128"]}],"datasets":["DRA029128"],"controlledAccessUsers":[]},{"id":"hum0358","version":4,"url":"https://humandbs.dbcls.jp/research/hum0358/v4","datePublished":"2026-08-20","versions":[{"version":1,"datePublished":"2022-12-20"},{"version":2,"datePublished":"2023-10-19"},{"version":3,"datePublished":"2025-09-24"},{"version":4,"datePublished":"2026-08-20"}],"title":{"ja":"子宮頸部腺癌・扁平上皮癌、腟・外陰癌の発生及び予後決定に関わる遺伝子異常の検索","en":"Research of genetic abnormalities related to the development and prognosis of adenocarcinoma and squamous cell carcinoma of the cervix and vaginal and vulvar cancer"},"summary":{"aims":{"ja":"現在、子宮頸部腺がんのような治療抵抗性の悪性腫瘍の発生及び予後決定に関わる明確な因子は同定されていない。本研究において、子宮頸部腺がんの分子生物学的特徴を、その他の子宮頸がん（扁平上皮がん）や腟・ 外陰部がんの発がんの分子生物学的特徴と対比した上で、子宮頸部腺がんの発生や予後決定に関わる分子マーカーを同定する。子宮頸部扁平上皮がんの中には若年発症かつ予後不良のがんも存在し、また子宮頸部小細胞神経内分泌がん（SCNEC）は進行も早く予後不良な希少腫瘍であり、腺がんとの混合組織型を呈することが多い。腺がんとSCNECの混合組織型を示すHPV18陽性子宮頸がん症例に対して空間トランスクリプトーム解析を実施することで、腺がんからSCNECへの分化経路、TGF-β-EMT経路の活性化、腫瘍-間質相互作用、および免疫微小環境の空間的特性を明らかにする。これらの知見は、子宮頸がんにおける神経内分泌分化の分子機構解明と新規治療標的の同定に貢献することが期待される。","en":"To identify molecular markers involved in the development and prognosis of cervical adenocarcinoma, we would like to elucidate the molecular biological characteristics of cervical adenocarcinoma in relation to the carcinogenesis of other cervical cancers (squamous cell carcinoma), vaginal and vulvar cancers. In addition, some squamous cell carcinomas of the cervix develop at a young age and have a poor prognosis. Small-cell neuroendocrine carcinoma (SCNEC) of the cervix is a rare, aggressive malignancy frequently coexisting with adenocarcinoma. Using Xenium spatial transcriptomics, we profiled over one million cells from an HPV18-positive mixed histology cervical cancer to elucidate the adenocarcinoma-to-SCNEC differentiation trajectory, TGF-β-EMT pathway activation, tumor-stromal interactions, and immune microenvironment organization. These findings aim to clarify neuroendocrine differentiation mechanisms and identify therapeutic targets."},"methods":{"ja":"全エクソン解析、RNAシークエンス解析、シングルセルRNAシークエンス解析、ターゲットバイサルファイトシークエンス解析、空間トランスクリプトーム解析","en":"Whole exome sequencing, RNA-seq, single-cell RNA sequencing, Target bisulfite sequencing, Spatial transcriptome analysis"},"targets":{"ja":"子宮頸がん19＋4＋96症例、NIKS18細胞株\n・全エクソンシークエンス：子宮頸がん1症例由来の腫瘍組織・腫瘍組織由来オルガノイド・末梢血各1検体、4症例由来の腫瘍組織（8検体）・末梢血（2検体）・腫瘍近傍の正常組織（2検体）、96症例由来の腫瘍組織（96検体）\n・RNA-seq：子宮頸がん1症例由来の腫瘍組織・腫瘍由来オルガノイドの2検体、13症例由来の腫瘍組織（13検体）、5症例由来の同一腫瘍内複数検体（77検体）、3症例由来の正常子宮頸部由来オルガノイド（3検体）、1症例由来の正常子宮頸部マイクロダイセクションで取得した4検体、NIKS18細胞株に対してsiRNA knockdownを行ったサンプル5検体\n・single-cell RNA-seq：子宮頸がん1症例由来の正常子宮頸部由来オルガノイド\n・ターゲットバイサルファイトシークエンス：子宮頸がん96症例由来の腫瘍組織\n・空間トランスクリプトーム解析：SCNECと腺がんとの混合組織型を呈するHPV18陽性子宮頸がん1症例の腫瘍組織","en":"cervical cancer total of 19 + 4 + 96 cases, NIKS18 cell line\n[Whole exome sequencing] 1 case: 3 samples of tumor/tumor-derived organoids/peripheral blood cell, 4 cases: 8 tumor samples, 2 peripheral blood samples, 2 normal areas near the tumors, 96 cases: 96 tumor samples\n[RNA-seq] 1 case: 2 samples of tumor/tumor-derived organoids, 13 cases: 13 tumor samples, 5 cases: multiple sampling from within the same tumor for a total of 77 samples, 3 cases: 3 samples from normal cervical tissue-derived organoids, 1 case: 4 samples from normal cervical tissue, siRNA-mediated knockdown samples of NIKS18 cell line (siNPM3: 2 samples, siNC: 3 samples)\n[single-cell RNA-seq] 50 cells of normal cervical tissue-derived organoids of one cervical cancer\n[Target bisulfite-seq] 96 tumor samples of 96 cervical cancer\n[Xenium In Situ Gene Expression] One tumor sample of HPV18-positive cervical cancer exhibiting a mixed histology of SCNEC and adenocarcinoma"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現\nメチル化","en":"Sequencing, Expression profiling, Methylation profiling"},"targets":{"ja":"子宮頸癌：19＋4＋96症例\n（日本人）\nNIKS18細胞株：5検体\n（細胞株）","en":"cervical cancer: 19 + 4 + 96 cases\n(Japanese)\nNIKS18 cell line: 5 samples\n(Cell-line)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq、scRNA-seq、Target bisulfite-seq）\nXenium In Situ Gene Expression","en":"NGS (Exome, RNA-seq, scRNA-seq, Target bisulfite-seq); Xenium In Situ Gene Expression"}},"releaseNote":{"ja":"子宮頸部小細胞神経内分泌がん（SCNEC）と腺がんとの混合組織型を呈するHPV18陽性子宮頸がん1症例の腫瘍組織を用いたXenium in situ空間トランスクリプトーム解析データをtif、h5、parquetファイル形式で提供する。","en":"Tumor tissue from a patient with HPV18-positive cervical cancer exhibiting a mixed histology of small cell neuroendocrine carcinoma (SCNEC) and adenocarcinoma was used for the Xenium in situ spatial transcriptome analysis. Tif, H5 and parquet files are provided."},"dataProviders":[{"name":{"ja":"曾根 献文","en":"Kenbun Sone"},"organization":{"name":{"ja":"東京大学医学部附属病院 女性診療科・産科","en":"Department of Obstetrics and Gynecology, The University of Tokyo Hospital"}}}],"researchProjects":[],"grants":[{"title":{"ja":"新規培養技術を用いた、扁平腺接合部細胞における高悪性度HPV18型の潜伏持続感染および発癌機構の解明","en":"Study of HPV-18 persistent infection and carcinogenesis in the squamocolumnar junction cells using novel culture technologies"},"agency":{"ja":"日本医療研究開発機構（AMED） 新興・再興感染症研究基盤創生事業","en":"Japan Program for Infectious Diseases Research and Infrastructure, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22wm0325014"]},{"title":{"ja":"創薬等支援のための1細胞・微小生体組織のトランスクリプトーム解析","en":"Transcriptome analysis of single cell and micro tissue sections for supporting of drug discovery"},"agency":{"ja":"日本医療研究開発機構（AMED） 創薬等ライフサイエンス研究支援基盤事業 創薬等先端技術支援基盤プラットフォーム（BINDS）","en":"Basis for Supporting Innovative Drug Discovery and Life Science Research (BINDS), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21am0101104"]},{"title":{"ja":"単一細胞解析技術の統合によるHPV18型幹細胞発癌機構の解明","en":"Elucidation of stem cell carcinogenesis mechanism of HPV18-associated cervical cancer by integration of single-cell analysis technologies Japan Agency for Medical Research and Development"},"agency":{"ja":"日本医療研究開発機構（AMED） 新興・再興感染症研究基盤創生事業","en":"Japan Program for Infectious Diseases Research and Infrastructure, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP24wm0325057"]},{"title":{"ja":"子宮頸癌の起源細胞の同定と、発癌・分化調整機構の解明","en":"Identification of the cell of origin of uterine cervical cancer and elucidation of the regulatory mechanism for carcinogenesis and differentiation"},"agency":{"ja":"科学研究費助成事業 若手研究","en":"KAKENHI Grant-in-Aid for Early-Career Scientists"},"grantIds":["22K16853"]},{"title":{"ja":"1細胞/微小組織マルチオミックスのオールインワン解析による生命科学研究の支援","en":"Support of life science studies by all-in-one single cell/micro tissue multi-omics analysis"},"agency":{"ja":"日本医療研究開発機構（AMED） 創薬等ライフサイエンス研究支援基盤事業 創薬等先端技術支援基盤プラットフォーム（BINDS）","en":"Basis for Supporting Innovative Drug Discovery and Life Science Research (BINDS), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP25ama121055"]}],"relatedPublications":[{"title":"Cells with stem-like properties are associated with the development of HPV18-positive cervical cancer","doi":"https://doi.org/10.1111/cas.15664","datasets":["JGAD000708"]},{"title":"Application of organoid culture from HPV18-positive small cell carcinoma of the uterine cervix for precision medicine","doi":"https://doi.org/10.1002/cam4.5588","datasets":["JGAD000713"]},{"title":"TGF-β drives adenocarcinoma-to-SCNEC cell differentiation with periostin-producing CAF activation in cervical cancer","doi":null,"datasets":["JGAD001062"]}],"datasets":["JGAD000708","JGAD000713","JGAD000966","JGAD000770","JGAD000967","JGAD001062"],"controlledAccessUsers":[]},{"id":"hum0343","version":5,"url":"https://humandbs.dbcls.jp/research/hum0343/v5","datePublished":"2026-08-13","versions":[{"version":1,"datePublished":"2022-05-26"},{"version":2,"datePublished":"2022-06-14"},{"version":3,"datePublished":"2024-06-21"},{"version":4,"datePublished":"2024-10-02"},{"version":5,"datePublished":"2026-08-13"}],"title":{"ja":"新型コロナウイルス感染症の遺伝学的知見に基づいたCOVID19ワクチンの開発と評価系の構築","en":"Development of COVID19 vaccine and evaluation system based on genetics of COVID-19"},"summary":{"aims":{"ja":"新型コロナウイルス感染症患者、無症候性感染者及び新型コロナウイルス感染症が疑われる患者の全ゲノムシーケンス、RNAシーケンス、超高精度HLA解析などを通して、重症化予測法システムの構築を行うことを目的とする。匿名化データを使用してCOVID-19の重症度予測などを数理モデルで解析するとともに、ウイルスと自己免疫性疾患およびCOVID-19の関連を解明する。","en":"To construct a prediction system for severe disease through whole genome sequencing, RNA sequencing, and ultra-high-precision HLA analysis of patients with COVID-19, asymptomatic infected patients, and patients suspected of having novel coronavirus infection. In addition, we will use anonymized data to analyze the prediction of severity of COVID-19 using mathematical models. To elucidate the association between viruses and autoimmune diseases and COVID-19."},"methods":{"ja":"ゲノムワイド関連解析、RNA-seq、タンパク質発現解析、eQTL/sQTL/pQTL解析、全ゲノムシーケンス","en":"Genome-wide association study (GWAS), RNA-seq, Protein expression analysis, eQTL/sQTL/pQTL study, whole genome sequencing"},"targets":{"ja":"ゲノムワイド関連解析：日本人5,682名 （COVID-19感染症患者：2,393名、対照者：3,289名）、日本人58,983名 （重症COVID-19感染症患者：3,087名、対照者：55,896名）\nRNA-seq：日本人COVID-19感染症患者1,019名\nタンパク質発現量解析：日本人COVID-19感染症患者1,384名\n全ゲノムシーケンス：日本人COVID-19感染症患者1,164名","en":"GWAS: 5,682 Japanese individuals (2,393 COVID-19 infected patients and 3,289 controls), 58,983 Japanese individuals (3,087 severe COVID-19 infected patients and 55,896 controls)\nRNA-seq: Maximum 1,019 COVID-19 infected patients\nProtein expression: 1,384 COVID-19 infected patients\nWhole genome sequencing: 1,164 COVID-19 infected patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\nゲノムワイド関連\n発現","en":"Sequencing, Genome-wide association, Expression profiling"},"targets":{"ja":"COVID-19感染者：2,393＋2,148症例\n対照者：3,289＋53,269名\n（日本人）","en":"COVID-19: 2,393 + 2,148 cases\nHealthy controls: 3,289 + 53,269 individuals\n(Japanese)"},"typeOfData":{"ja":"NGS\n（RNA-seq）\nSNP-chip\nタンパク質発現量\neQTL/sQTL/pQTL\neHHV-6の有無、アネロウイルス量","en":"NGS\n(RNA-seq)\nSNP-chip\nProtein expression\neQTL/sQTL/pQTL\nPresence or absence of endogenous herpesvirus 6, anellovirus load"}},"releaseNote":{"ja":"重症COVID-19感染者3,087名および対照者55,896名の末梢血から抽出したDNAを用いたSNPアレイデータによるGenotypingデータのGWAS統計データをテキスト形式にて提供する。","en":"DNAs extracted from peripheral blood cells of 3,087 severe COVID-19 infected patients and 55,896 controls were genotyped by using of Illumina Infinium Asian Screening Array and genome-wide association studies were performed (txt files)."},"dataProviders":[{"name":{"ja":"福永 興壱","en":"Koichi Fukunaga"},"organization":{"name":{"ja":"慶應義塾大学医学部 呼吸器内科","en":"Department of Medicine, Pulmonary Division, Keio University School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"新型コロナウイルス感染症の遺伝学的知見に基づいた分子ニードルCOVID-19粘膜免疫ワクチンの開発","en":"Development of genetically-designed COVID19 mucosal immune vaccine with molecular needle platform"},"agency":{"ja":"国立研究開発法人日本医療研究開発機構（AMED）創薬支援推進事業","en":"Project Promoting Support for Drug Discovery, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20nk0101612"]},{"title":{"ja":"新型コロナウイルス感染症の重症化阻止を目指した医薬品・次世代型ワクチン開発に必要な遺伝学・免疫学・代謝学的基盤研究の推進","en":"Promotion of genetic, immunological, and metabolic research necessary for the development of next-generation vaccines and drugs aiming to prevent the aggravation of coronavirus disease 2019"},"agency":{"ja":"新興・再興感染症に対する革新的医薬品等開発推進研究事業","en":"Research Program on Emerging and Re-emerging Infectious Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20fk0108415"]},{"title":{"ja":"新型コロナ変異ウイルスに対する遺伝学的、免疫学的、代謝学的病態解明および治療戦略の策定","en":"Elucidation of pathogenesis and development of therapeutic strategies using genetic, immunological, and metabolic studies against SARS-CoV-2 variants"},"agency":{"ja":"新興・再興感染症に対する革新的医薬品等開発推進研究事業","en":"Research Program on Emerging and Re-emerging Infectious Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20fk0108452"]},{"title":{"ja":"新型コロナウイルス感染症後遺症の病態生理の多分野融合による解明","en":"Elucidation of the pathophysiology of the sequelae of coronavirus disease 2019 using a multidisciplinary approach"},"agency":{"ja":"新興・再興感染症研究基盤創生事業（多分野融合研究領域）","en":"Japan Program for Infectious Diseases Research and Infrastructure, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21wm0325031"]},{"title":{"ja":"先端ゲノム解析と人工知能によるコロナ制圧研究","en":"Research on Conquering Coronavirus Disease by Advanced Genomic Analysis and Artificial Intelligence"},"agency":{"ja":"国立研究開発法人科学技術振興機構（JST） 戦略的創造研究推進事業CREST","en":"Core Research and Evolutional Science and Technology (CREST), Japan Science and Technology Agency (JST)"},"grantIds":["JPMJCR20H2"]},{"title":{"ja":"免疫オミクス情報の横断的統合による関節リウマチのゲノム個別化医療の実現","en":"Genomic prediction medicine of rheumatoid arthritis based on comprehensive immune-omics resources"},"agency":{"ja":"国立研究開発法人日本医療研究開発機構（AMED） 免疫アレルギー疾患実用化研究事業","en":"Practical Research Project for Allergic Diseases and Immunology, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20ek0410075"]},{"title":{"ja":"横断的オミクス解析と全ゲノムシークエンスを駆使した疾患病態と組織特異性の解明","en":"Elucidation of tissue-specificity of disease biology using trans-layer omics analysis and whole-genome sequencing"},"agency":{"ja":"科学研究費補助金 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["19H01021"]},{"title":{"ja":"大規模集団ゲノムデータを利用した遺伝子発現制御文法の機械学習による、VUS 病原性の網羅的評価と実験検証","en":"Systematic evaluation of variant of uncertain significance (VUS) pathogenicity through population genomics data analysis and massively parallel reporter assay"},"agency":{"ja":"国立研究開発法人日本医療研究開発機構（AMED） ゲノム創薬基盤推進研究事業","en":"Program for Promoting Platform of Genomics based Drug Discovery, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22kk0305022"]},{"title":{"ja":"ゲノム制御機構を解明する、解釈可能な汎用予測モデルの構築","en":"Towards a generalized and interpretable model for comprehensive understanding of human gene regulatory mechanisms"},"agency":{"ja":"国立研究開発法人科学技術振興機構（JST） 創発的研究支援事業","en":"Fusion Oriented REsearch for disruptive Science and Technology (FOREST) program, Japan Science and Technology Agency (JST)"},"grantIds":["JPMJFR225Y"]},{"title":{"ja":"パンデミックに対してレジリエントな研究体制構築のための基盤研究","en":"Fundamental research to build an academic system resilient to pandemics"},"agency":{"ja":"国立研究開発法人科学技術振興機構（JST） 戦略的創造研究推進事業さきがけ","en":"Promoting Individual Research to Nurture the Seeds of Future Innovation and Organizing Unique, Innovative Network (PRESTO), Japan Science and Technology Agency (JST)"},"grantIds":["JPMJPR21R7"]}],"relatedPublications":[{"title":"DOCK2 is involved in the host genetics and biology of severe COVID-19","doi":"https://doi.org/10.1038/s41586-022-05163-5","datasets":["NHA000169","NHA000168"]},{"title":"The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force","doi":"https://doi.org/10.1038/s41467-022-32276-2","datasets":["NHA000172"]},{"title":"Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal their distinct regulation patterns and disease relevance","doi":"https://doi.org/10.1038/s41588-024-01896-3","datasets":["E-GEAD-759","NHA000193"]},{"title":"Blood DNA virome associates with autoimmune diseases and COVID-19.","doi":"https://doi.org/10.1038/s41588-024-02022-z","datasets":["JGAD000874"]},{"title":"MUC19 is a genetic factor for severe COVID-19 in individuals of East Asian ancestry","doi":null,"datasets":["NHA000210"]}],"datasets":["NHA000169","NHA000168","NHA000172","E-GEAD-759","NHA000193","JGAD000874","NHA000210"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"浜田 道昭","en":"Michiaki Hamada"},"affiliation":{"ja":"浜田研究室, 理工学術院, 早稲田大学","en":"Hamada Laboratory, Faculty of Science and Engineering, Waseda University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"RNA標的創薬データベースの構築","en":"Construction of RNA-targeted Drug Discovery Database"},"periodStart":"2023-01-05","periodEnd":"2027-10-31","datasets":["JGAD000874"]}]},{"id":"hum0405","version":4,"url":"https://humandbs.dbcls.jp/research/hum0405/v4","datePublished":"2026-08-05","versions":[{"version":1,"datePublished":"2023-12-25"},{"version":2,"datePublished":"2025-07-16"},{"version":3,"datePublished":"2025-12-02"},{"version":4,"datePublished":"2026-08-05"}],"title":{"ja":"小児・成人悪性腫瘍がん幹細胞の同定に関する研究","en":"Research on the identification of cancer stem cells for peidatric and adult malignancies"},"summary":{"aims":{"ja":"近年、白血病・脳腫瘍・乳がん等多くのがんにおいて「がん幹細胞」が存在することが報告され、がんの再発の主原因であることが多くの報告で明らかにされてきているが、多くの小児・成人悪性腫瘍ではがん幹細胞を明確に同定し、その生物学的特性を検討した報告は存在しない。本研究では小児・成人悪性腫瘍の患者検体を使用して、がん幹細胞を同定が可能であるかを検証することを目的とする。希少な小児がんに対し、体細胞・胚細胞変異を包括したゲノミクスや、トランスクリプトミクス、プロテオミクス、メタボロミクス などを統合したオミクス解析を展開することで、がん幹細胞や前駆細胞レベルでの病態、個体間差異を含めた腫瘍を取り巻く環境などの対象疾患の生物学的特性の理解を深める。得られた知見と患者臨床情報を元に、マウスモデルやin vitroモデルを用いて新規治療薬や細胞療法など新規治療戦略による非臨床薬理試験を行い、治療効果を検討する。","en":"In recent years, \"cancer stem cells\" have been reported to exist in many cancers. Many reports have shown that they are the main cause of cancer recurrence. The aim of this study is to test whether cancer stem cells can be identified using patient samples. We will perform omics analysis of rare pediatric cancers by integrating genomics, transcriptomics, proteomics and metabolomics, including somatic and germline mutations, to deepen our understanding of the biological characteristics of the target disease. Based on the knowledge gained and clinical information from patients, we will conduct preclinical pharmacological studies using mouse models and in vitro models to investigate the therapeutic effects of novel therapeutic agents and novel therapeutic strategies such as cellular therapies."},"methods":{"ja":"WES、RNA-seq、small RNA-seq、WGS、Amplicon-seq、メチル化アレイ、scRNA-seq/ADT-seq/TCR-seq、CUT&RUN-seq","en":"WES, RNA-seq, small RNA-seq, WGS, Amplicon-seq, Methylation array, scRNA-seq/ADT-seq/TCR-seq, CUT&RUN-seq"},"targets":{"ja":"小児B前駆細胞性急性リンパ性白血病 69症例\n小児急性骨髄性白血病 9症例（内、5症例は初発時は小児B前駆細胞性急性リンパ性白血病、再発時に急性骨髄性白血病を呈した症例）\nCD19 CAR-T療法（tisagenlecleucel）を受けたB細胞性前リンパ球性白血病（B-cell precursor ALL：BCP-ALL）16症例\n慢性活動性ウイルス感染症（chronic active EBV infection：CAEBV） 65症例\n伝染性単核球症（infectious mononucleosis：IM） 6症例\n健常人 4名","en":"Pediatric B-cell precursor acute lymphocytic leukemia: 69 cases\nPediatric acute myeloid leukemia: 9 cases\nB-cell precursor acute lymphocytic leukemia patients who received tisagenlecleucel: 16 cases\nchronic active EBV infection (CAEBV): 65 cases\ninfectious mononucleosis (IM): 6 cases\n4 healthy volunteers"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現\n配列決定\nメチル化\nヒストン修飾","en":"Expression profiling\nSequencing\nMethylation profiling\nHistone modification"},"targets":{"ja":"小児B前駆細胞性急性リンパ性白血病：69症例\n小児急性骨髄性白血病：9症例\nB細胞性前リンパ球性白血病：16症例\n慢性活動性EBウイルス感染症：65症例\n伝染性単核球症：6症例\n健常人：4名\n（日本人）","en":"Pediatric B-cell precursor acute lymphocytic leukemia: 69 cases\nPediatric acute myeloid leukemia: 9 cases\nB-cell precursor acute lymphoblastic leukemia: 16 cases\nchronic active EBV infection: 65 cases\ninfectious mononucleosis: 6 cases\n4 healthy individuals\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq、small RNA-seq、WGS、Amplicon-seq、scRNA-seq/ADT-seq/TCR-seq、CUT&RUN-seq）\nメチル化アレイ","en":"NGS\n(Exome, RNA-seq, small RNA-seq, WGS, Amplicon-seq, scRNA-seq/ADT-seq/TCR-seq, CUT&RUN-seq)\nMethylation array"}},"releaseNote":{"ja":"慢性活動性EBV感染症（CAEBV）65症例のEBV感染細胞もしくは細胞株、非感染細胞、末梢血単核球（PBMC）、ならびに、伝染性単核球症（IM）6症例、健常人4名のNK細胞またはPBMCより抽出したDNA/RNAを用いたWGS、WES、RNA-seq、Amplicon-seq、メチル化アレイ、scRNA-seq/ADT-seq/TCR-seq、およびCUT&RUN-seq解析データをbam、bai、fastq、IDATファイルにて提供する。","en":"DNAs/RNAs were extracted from EBV-infected cells, cell-lines, uninfected cells and PBMCs from 65 patiants with chronic active EBV infection (CAEBV), NK cells and PBMCs from 6 patiants with infectious mononucleosis (IM) and 4 healthy individuals. WGS, WES, Amplicon-seq, RNA-seq, Methylation array, scRNA-seq/ADT-seq/TCR-seq and CUT&RUN-seq analyses were performed. Bam, bai, IDAT and fastq files are provided."},"dataProviders":[{"name":{"ja":"滝田 順子","en":"Junko Takita"},"organization":{"name":{"ja":"京都大学 発達小児科学","en":"Department of Pediatrics, Graduate School of Medicine, Kyoto University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"難治性小児がんの時空的多様性の解明と新規創薬の開発","en":"Study of spatiotemporal variety of intractable pediatric cancers and development of new drugs"},"agency":{"ja":"日本医療研究開発機構（AMED） 次世代がん医療加速化研究事業（P-PROMOTE）","en":"Project for Promotion of Cancer Research and Therapeutic Evolution (P-PROMOTE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ama221505"]},{"title":{"ja":"マルチオミックス情報を基盤とした難治性小児がんに対する新規克服法の開発","en":"Development of novel therapeutic strategies for intractable pediatric cancers based on the multi-omics information"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["17H04224"]},{"title":{"ja":"小児がんにおける遺伝学的高発がん感受性の機序とクローン進化の統合的解析","en":"Integrated analysis of mechanisms of genetic susceptibility to cancer and clonal evolution in pediatric cancer"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["20H00528"]},{"title":{"ja":"小児固形腫瘍の克服に資するドライバー遺伝子を標的としない新規治療法の開発","en":"Development of novel therapeutic strategies for pediatric solid tumor based on non-driver gene targeted approaches"},"agency":{"ja":"科学研究費助成事業 挑戦的研究（萌芽）","en":"KAKENHI Grant-in-Aid for Challenging Research (Exploratory)"},"grantIds":["21K19405"]},{"title":{"ja":"神経発達症群と腫瘍形成におけるクロストークの解明と新規創薬の開発","en":"Elucidation of crosstalk between neurodevelopmental disorders and tumorigenesis and development of novel therapeutic drugs"},"agency":{"ja":"科学研究費助成事業 挑戦的研究（萌芽）","en":"KAKENHI Grant-in-Aid for Challenging Research (Exploratory)"},"grantIds":["23K18264"]},{"title":{"ja":"小児期から若年成人期に発症する悪性腫瘍の克服に資する時空的多様性の解明","en":"Clarification of spatio-temporal diversity for overcoming cancers that develop from childhood to young adulthood"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["24H00628"]}],"relatedPublications":[{"title":"RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia","doi":"https://doi.org/10.1182/bloodadvances.2023011583","datasets":["JGAD000752"]},{"title":"Multi-omics analysis identifies an M-MDSC-like immunosuppressive phenotype in lineage-switched AML with KMT2A rearrangement","doi":"https://doi.org/10.1038/s41467-025-63271-y","datasets":["JGAD000761"]},{"title":"CAR-T cells with the CD38-CD73-Tim-3-HLA-DR+ phenotype predict the efficacy of tisagenlecleucel as a treatment for B cell precursor ALL","doi":"https://doi.org/10.1016/j.xcrm.2025.102576","datasets":["JGAD000901"]},{"title":"Multiomics analysis reveals the genetic and epigenetic features of high-risk NK cell-type chronic active EBV infection","doi":"https://doi.org/10.1182/blood.2024026805","datasets":["JGAD000870"]}],"datasets":["JGAD000752","JGAD000761","JGAD000901","JGAD000870"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"浜田 道昭","en":"Michiaki Hamada"},"affiliation":{"ja":"浜田研究室, 理工学術院, 早稲田大学","en":"Hamada Laboratory, Faculty of Science and Engineering, Waseda University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"RNA標的創薬データベースの構築","en":"Construction of RNA-targeted Drug Discovery Database"},"periodStart":"2023-01-05","periodEnd":"2027-10-31","datasets":["JGAD000752","JGAD000761","JGAD000901"]}]},{"id":"hum0444","version":2,"url":"https://humandbs.dbcls.jp/research/hum0444/v2","datePublished":"2026-08-04","versions":[{"version":1,"datePublished":"2024-04-03"},{"version":2,"datePublished":"2026-08-04"}],"title":{"ja":"遺伝学的変化を要因とする皮膚疾患のマルチオミックス解析による病態解明の研究","en":"Research to elucidate pathological conditions of skin diseases caused by genetic alterations by multi-omics analysis"},"summary":{"aims":{"ja":"皮膚に何らかの症状を現す疾患（単一遺伝子病、遺伝的背景・素因が発症に関与する可能性があると科学的に考えられる疾患、後天性に生じた遺伝学的変化が発症に関与する可能性があると科学的に考えられる疾患、遺伝学的素因が類推されるが既知の疾患に合致しない未診断疾患）を発症した患者における、先天的もしくは病変部組織において後天的に生じた遺伝学的変化や発現変化について、様々なマルチオミックス解析技術（全エクソーム解析、全ゲノム解析、ターゲットエクソーム解析、トランスクリプトーム解析、SNP-chip解析、EPICアレイ解析、ATACシーケンシング解析、シングルセル解析、質量分析解析・プロテオミクス解析、リピドミクス解析、エクソソーム解析など）を用いて網羅的に探索することで、発症要因となった遺伝学的変化を同定すること。","en":"In patients diagnosed with a single-gene disease, those considered to have a genetic background or predisposition influencing their disease's pathogenesis, those with diseases believed to involve acquired genetic changes contributing to their development, or those with an undiagnosed disease resembling a genetic predisposition but not matching any known diseases, we analyze both congenital and acquired genetic changes, as well as genetic or expression changes in the diseased tissue, using various multi-omics techniques (whole-exome, whole-genome, targeted-exome, transcriptome, ATAC sequencing, SNP-chip, EPIC array, etc.). The primary objective is to identify the genetic changes contributing to the pathogenesis."},"methods":{"ja":"WGS、WES、ロングリードWGS、Amplicon-seq、RNA-seq、SNP-chip、メチル化アレイ","en":"WGS, WES, long-read WGS, Amplicon-seq, RNA-seq, SNP-chip and methylation array analysis"},"targets":{"ja":"汗孔角化症 8症例、nevus spilus-type congenital melanocytic nevus（NS-CMN） 3症例","en":"8 porokeratosis patients, 3 nevus spilus-type congenital melanocytic nevus (NS-CMN) patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現\nメチル化","en":"Sequencing\nExpression profiling\nMethylation profiling"},"targets":{"ja":"汗孔角化症：8症例\nNevus spilus-type congenital melanocytic nevus（NS-CMN）：3症例\n（日本人）","en":"8 porokeratosis patients\n3 Nevus spilus-type congenital melanocytic nevus (NS-CMN) patients\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS、Exome、ロングリードWGS、Amplicon-seq、RNA-seq）\nSNPアレイ\nメチル化アレイ","en":"NGS\n(WGS, Exome, Long-read WGS, Amplicon-seq, RNA-seq)\nSNP array\nMethylation array"}},"releaseNote":{"ja":"Nevus spilus-type congenital melanocytic nevus（NS-CMN）3症例の皮膚、培養細胞および末梢血より抽出したDNAを用いたWESおよびSNP-chip解析データをfastqおよびidatファイルにて提供する。","en":"DNAs were extracted from skin, cultured cells, and peripheral blood cells from 3 nevus spilus-type congenital melanocytic nevus (NS-CMN) patients. WES and SNP-chip analyses were performed. Fastq and idat files are provided."},"dataProviders":[{"name":{"ja":"久保 亮治","en":"Akiharu Kubo"},"organization":{"name":{"ja":"神戸大学大学院医学研究科 内科系講座皮膚科学教室","en":"Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"汗孔角化症の病態解明を通じた細胞競合/クローン拡大機構の理解と新規治療法開発","en":"Understanding the mechanism of cell competition/clonal expansion and developing new therapies by elucidating the pathomechanism of porokeratosis"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["23H02931"]},{"title":{"ja":"汗孔角化症の病態メカニズム解明を通じたヒト細胞競合の理解","en":"Understanding cell competition in humans by elucidating the pathomechanism of porokeratosis"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["20H03704"]},{"title":{"ja":"精緻エピゲノム解析技術開発とIRUD未解明症例への応用","en":"Diagnosis of rare diseases and elucidation of molecular pathological states by using epigenetic information"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ek0109489"]},{"title":{"ja":"構造異常・スプライシング異常・メチル化異常の革新的検出系による未診断疾患患者の診断率向上とN-of-1創薬への導出","en":"Innovative detection systems for structural, splicing, and methylation aberrations to improve the diagnostic rate of undiagnosed patients: early diagnosis and preparation for N-of-1 drug development"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP23ek0109672"]},{"title":{"ja":"若年期体細胞モザイクの発生要因・拡大原理の解明とその制御による新規治療基盤の創出","en":"Elucidating the developing factors and expanding mechanisms of juvenile somatic mosaicism to establish novel therapeutic strategies"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的先端研究開発支援事業 ソロタイプ（PRIME）","en":"Precursory Research for Innovative Medical care (PRIME), Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21gm6310026"]},{"title":{"ja":"ヒト細胞競合モザイク疾患の疾患概念確立と病態解明","en":"Establishment of a novel disease concept for cell competitive mosaicism in human"},"agency":{"ja":"科学研究費助成事業 学術変革領域研究（A）","en":"KAKENHI Grant-in-Aid for Transformative Research Areas (A)"},"grantIds":["24H01406"]},{"title":{"ja":"体細胞セカンドヒットによる汗孔角化症の発症メカニズム解明","en":"Elucidation of the Pathogenic Mechanism of Porokeratosis Caused by Somatic Second-Hit Mutations"},"agency":{"ja":"科学研究費助成事業 若手研究","en":"KAKENHI Grant-in-Aid for Early-Career Scientists"},"grantIds":["25K19541"]},{"title":{"ja":"未診断疾患イニシアチブ(Initiative on Rare and Undiagnosed Diseases(IRUD)):希少未診断疾患に対する診断プログラムの開発に関する研究","en":"Initiative on Rare and Undiagnosed Diseases(IRUD): Research on the development of diagnostic programs for rare undiagnosed diseases"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP24ek0109760"]},{"title":{"ja":"エピゲノム変異と細胞競合に着目したクローン性増殖モザイク疾患の病態解明","en":"Decoding Clonal Expansion in Mosaic Disorders: Epigenomic Alterations and Cell Competition"},"agency":{"ja":"公益財団法人 武田科学振興財団 生命科学研究助成","en":"Takeda Science Foundation"},"grantIds":null},{"title":{"ja":"ヒト細胞競合モザイク疾患の確立とその病態機構の解明","en":"Human Cell-Competition Mosaic Disorders: Establishing a New Disease Paradigm and Deciphering Pathogenesis"},"agency":{"ja":"公益財団法人 上原記念生命科学財団 特定研究助成金","en":"The Uehara Memorial Foundation"},"grantIds":null}],"relatedPublications":[{"title":"Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis","doi":"https://doi.org/10.1016/j.ajhg.2024.03.017","datasets":["JGAD000817"]},{"title":"Postzygotic NRAS Variants and Subsequent Copy-Neutral Loss of Heterozygosity Underlie Speckled Pattern Formation in Nevus Spilus-Type Congenital Melanocytic Nevus","doi":"https://doi.org/10.1016/j.jid.2026.08.007","datasets":["JGAD001073"]}],"datasets":["JGAD000817","JGAD001073"],"controlledAccessUsers":[]},{"id":"hum0197","version":31,"url":"https://humandbs.dbcls.jp/research/hum0197/v31","datePublished":"2026-07-31","versions":[{"version":1,"datePublished":"2019-11-15"},{"version":2,"datePublished":"2020-11-27"},{"version":3,"datePublished":"2021-03-22"},{"version":4,"datePublished":"2021-12-10"},{"version":5,"datePublished":"2021-12-21"},{"version":6,"datePublished":"2022-02-08"},{"version":7,"datePublished":"2022-05-23"},{"version":8,"datePublished":"2022-06-03"},{"version":9,"datePublished":"2022-06-10"},{"version":10,"datePublished":"2022-06-16"},{"version":11,"datePublished":"2022-07-21"},{"version":12,"datePublished":"2022-12-01"},{"version":13,"datePublished":"2023-02-14"},{"version":14,"datePublished":"2023-02-16"},{"version":15,"datePublished":"2023-03-29"},{"version":16,"datePublished":"2023-06-06"},{"version":17,"datePublished":"2023-06-27"},{"version":18,"datePublished":"2023-10-02"},{"version":19,"datePublished":"2024-05-29"},{"version":20,"datePublished":"2024-05-30"},{"version":21,"datePublished":"2024-10-28"},{"version":22,"datePublished":"2024-11-11"},{"version":23,"datePublished":"2024-12-18"},{"version":24,"datePublished":"2025-05-07"},{"version":25,"datePublished":"2025-07-25"},{"version":26,"datePublished":"2025-10-27"},{"version":27,"datePublished":"2025-12-02"},{"version":28,"datePublished":"2025-12-12"},{"version":29,"datePublished":"2026-01-22"},{"version":30,"datePublished":"2026-03-10"},{"version":31,"datePublished":"2026-07-31"}],"title":{"ja":"多層的オミクス解析による疾患病態の解明","en":"Elucidation of disease state by multi-layered omics analysis"},"summary":{"aims":{"ja":"多層的オミクス解析による疾患病態の解明、日本人集団におけるGWASおよび複数集団におけるGWASメタ解析、COVID-19重症化メカニズムの解明、2型糖尿病ポリジェニック予測精度の向上、不育症の遺伝的背景の解明、日本人集団における縄文割合に関する遺伝的背景と表現型・疾患との関連の解明、HPV関連中咽頭がんのHPVインテグレーションの全容解明、遺伝子環境交互作用を用いた多層的オミクス解析による疾患病態の解明、男性特異的遺伝的制御機構の解明、多発性硬化症の遺伝的背景の解明","en":"Elucidation of disease biology based on trans-omics analysis, GWAS in the Japanese and trans-ethnic populations, Elucidation of the mechanism of COVID-19 severity, Improving the performance of type 2 diabetes polygenic predictions, Elucidation of the genetic architecture of recurrent pregnancy loss, Elucidation of the association between Jomon component in the Japanese population and phenotypes and diseases, Elucidation of the entire HPV integration in HPV-associated Oropharyngeal Cancer, Elucidation of disease state regulation by gene-environment interactions through multi-layered omics analysis, Elucidation of male-specific genetic regulation through multi-layered omics analysis, Elucidation of the genetic architecture of multiple sclerosis"},"methods":{"ja":"メタゲノムシークエンス、ゲノムワイド関連解析、small RNA-seq解析、single-cell RNA-seq解析、eQTL解析、全ゲノムシーケンス、プロテオミクス","en":"Metagenome shotgun sequencing, genome-wide association study (GWAS), small RNA-seq and eQTL analyses, whole genome sequencing (WGS), single-cell RNA sequencing, proteomics"},"targets":{"ja":"日本人集団（95＋103＋227＋30＋136 名）の腸内細菌叢のメタゲノムシークエンスデータ\n肺胞蛋白症患者：198名、対照者：395名のゲノムワイド関連解析データ\nバイオバンク・ジャパン（179,000名）、UKバイオバンク（361,000名）、FinnGen（136,000名）の220形質のゲノムワイド関連解析データ\n日本人集団141名のsmall RNA-seq解析により定量した個人毎のmiRNAリードカウントデータと、全ゲノムシーケンス解析データと合わせて解析したeQTL解析データ\n炎症性腸疾患症例（潰瘍性大腸炎35症例、クローン病39症例）、対照健常者40名のメタゲノムシークエンスデータ\n頭蓋内胚細胞腫瘍患者：133名、対照者：762名のゲノムワイド関連解析データ\nバイオバンク・ジャパン（161,801名）、UKバイオバンク（377,583名）の9形質のゲノムワイド関連解析データ\n日本人集団におけるCOVID-19患者30＋43症例と健常者31＋44名の末梢血単核細胞（PBMC）から抽出したRNAを用いたscRNA-seqデータ\n微生物ゲノムのMetagenome-Assembled Genome（MAG）・ウイルスのゲノム配列・CRISPR spacer配列\n日本人88名および健常人73名のショットガンシークエンスデータ、ならびに、日本人5名の高深度ショットガンシークエンスデータ\nバイオバンク・ジャパン（180,215名）、UKバイオバンク（377,441名）の15形質のゲノムワイド関連解析データ、ならびに、FinnGen、Breast Cancer Association Consortium（BCAC）、Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome（PRACTICAL）の要約統計量を含めたメタ解析（乳がん：648,746名、前立腺がん：482,080名）データ\n間質性膀胱炎ハンナ型：144名、対照者：41,516名のゲノムワイド関連解析データ\n腸内微生物叢（日本人集団524名、423種の微生物）のゲノムワイド関連解析データ\n血中代謝物（日本人集団362名、306種の代謝物）のゲノムワイド関連解析データ\nKEGG Gene OrthologおよびKEGG Pathwayのゲノムワイド関連解析データ\nバイオバンク・ジャパン2型糖尿病症例27,642名と対照群70,242名、UKバイオバンクの2型糖尿病症例27,642名と対照群70,242名のゲノムワイド関連解析データを基に算出した、ポリジェニックスコア予測対象である東北メディカル・メガバンクおよびバイオバンク・ジャパン2次コホートに存在する多型の重みデータ\n不育症患者：1,728名、対照者：24,315名のゲノムワイド関連解析データ\n自己免疫疾患：2,238名、対照群：2,919名を対象とした全ゲノムシーケンスより算出した内在性ヘルペスウイルス6（eHHV-6）の有無やアネロウイルス量データ\n自己免疫疾患238例（eHHV-6B陽性22例、陰性216例）のゲノムワイド関連解析データ\neHHV-6B陽性SLE患者3例と陰性SLE患者5例のシングルセルRNAシーケンスデータ\nバイオバンク・ジャパン第1コホート171,287名の各人の縄文割合を形質としたゲノムワイド関連解析データ\nHPV関連中咽頭がん患者14例の全ゲノムシーケンスデータ、ならびに、HPV関連中咽頭がん患者19例、HPV非関連中咽頭がん患者17例、健常対象者2名のバルクRNAシーケンスデータ\n視神経脊髄炎関連疾患（NMOSD）：240症例、対照者：50,578名のゲノムワイドメタ解析の要約統計量、ならびに、NMOSD25症例から採取した末梢血単核細胞由来のscRNA-seq解析オブジェクトの統合データ\n日本人集団におけるCOVID-19感染88症例および健常者146名のscRNA-seq解析データを用いた、40細胞分画のeQTL統計量\n日本人集団におけるCOVID-19感染83症例と健常者144名の血漿プロテオームデータ\n日本人集団におけるCOVID-19感染15症例および健常者72名のPBMCから抽出したRNAを用いたscRNA-seqデータ\n乾癬1,415症例、対照群3,968名を対象としたゲノムワイド関連解析データ\nバイオバンク・ジャパン（166,757名）、UKバイオバンク（273,453名）の374形質のゲノムワイド関連解析データ\n日本人男性 161,026名（バイオバンク・ジャパン120,522名、日本COVID-19タスクフォース（Japan COVID-19 Task Force：JCTF）3,161名、東北メディカル・メガバンク26,544名、COVID-19 ワクチン接種者コホート（COVC）888名、愛知県がんセンター病院疫学研究（HERPACC）6,636名、次世代多目的コホート（JPHC）3,275名）のY染色体欠失のゲノムワイド関連解析データ\n日本人男性気管支喘息患者3症例のscRNA-seqデータ、日本人男性COVID-19患者4症例のsnMultiome（RNA＋ATAC）データ\n重症筋無力症患者：1,434名（Japan MG Registry）、対照者：42,913名（バイオバンク・ジャパン）のゲノムワイド関連解析データ\nもやもや病401症例、対照47,255名のゲノムワイド関連解析データ\n日本人集団の多発性硬化症（multiple sclerosis：MS）688症例と対照健常者205,199名、ヨーロッパ人集団のMS 27,572症例と対照健常者1,436,801名、アフリカ人集団のMS 819症例と対照健常者155,904名、それぞれのGWASならびに、アメリカ人集団のMS 295症例と対照健常者45,569名を加えた多祖先集団のMS 29,374症例と対照健常者1,843,563名のメタ解析の要約統計量。併せて、MS 20症例のscRNA-seq解析オブジェクトの統合データ","en":"Metagenomic data of gut microbiome in the Japanese population (95 + 103 + 227 + 30 + 136 individuals)\nAutoimmune pulmonary alveolar proteinosis cases: 198, Control participants: 395\nPopulations: Biobank Japan (n = 179,000), UK biobank (n = 361,000), and FinnGen (n = 136,000), Phenotypes: 220\n141 Japanese individuals\nMetagenomic data of gut microbiome in Inflammatory Bowel Disease (35 Ulcerative Colitis and 39 Crohn's disease) and 40 Healthy controls\nIntracranial germ cell tumors cases: 133, Control participants: 762\nPopulations: Biobank Japan (n = 161,801) and UK biobank (n = 377,583), Phenotypes: 9\nPeripheral blood mononuclear cell (PBMC) from Japanese population (COVID-19: n = 30 + 43, Healthy controls: n = 31 + 44)\nMicrobial genome: Metagenome-Assembled Genome (MAG), Viral genome, CRISPR spacers\nMetagenomic data of gut microbiome in the Japanese population (88 + 5 individuals) and healthy individuals (n = 73)\nBioBank Japan (n=180,215), UK Biobank (n=377,441), and large-scale meta-analysis including the summary statistics of other cohorts [FinnGen, Breast Cancer Association Consortium (BCAC), and Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL)] for breast and prostate cancer (n=648,746 and 482,080), Phenotypes: 15\nHunner-type interstitial cystitis cases: 144, Control participants: 41,516\n524 Japanese individuals for gut microbiome-host genome association analysis, 362 Japanese individuals for plasma metabolite-host genome association analysis\nThe weights of variants existing in the target cohorts, Tohoku Medical Megabank and the second cohort of BBJ, calculated from GWAS results on 27,642 type 2 diabetes cases and 70,242 controls from BioBank Japan and UK Biobank\nRecurrent pregnancy loss cases: 1,728, Control participants: 24,315\nAutoimmune diseases cases: 2,238, Healthy controls: 2,919\nThe first cohort of BioBank Japan (n = 171,287)\nHPV-associated oropharyngeal cancer cases: 32, Non-HPV-associated oropharyngeal cancer cases: 17, Healthy controls: 2\nNeuromyelitis optica spectrum disorders (NMOSD) cases: 240, Control participants: 50,578\nSingle-cell eQTL summary statistics of 40 immune cell types for Japanese population (COVID-19: n = 88, Healthy controls: n = 146)\nPlasma proteomics data from 83 COVID-19 patients and 144 healthy controls of Japanese\nSingle-cell RNA-sequencing for PBMC from 15 COVID-19 patients and 72 healthy controls of Japanese\nPsoriasis cases: 1,415, Control participants: 3,968\nPopulations: Biobank Japan (n = 166,757) and UK biobank (n = 273,453), Phenotypes: 374\n161,026 Japanese males (BBJ: 120,522, JCTF: 3,161, TMM: 26,544, COVC: 888, HERPACC: 6,636, JPHC: 3,275)\nJapanese male asthma patients: 3 cases, Japanese male COVID-19 patients: 4 cases\nMyasthenia gravis cases: 1,434 (Japan MG Registry), Control participants: 42,913 (BioBank Japan)\n401 Moyamoya diseasepatients and 47,255 controls\nSummary statistics of the genome-wide association study (GWAS) meta-analysis: 688 multiple sclerosis (MS) patients and 205,199 controls in the Japanese population, 27,572 MS patients and 1,436,801 controls in the European population, 819 MS patients and 155,904 controls in the African population, and 29,374 MS patients and 1,843,563 controls in the cross-population (293 MS patients and 45,569 controls in the US population was included) and Single-cell RNA-seq data from 20 MS patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"メタゲノム\nゲノムワイド関連\n発現\neQTL\nクロマチン構造","en":"Metagenome, GWAS, Expression profiling, eQTL, Chromatin structure analysis"},"targets":{"ja":"日本人集団：95＋103＋227＋30＋141＋136＋88＋5＋524名\nBBJ：180,215名\nUKバイオバンク：377,583名\nFinnGen：136,000＋224,352名\nBCAC：247,173名\nPRACTICAL：140,254名\n肺胞蛋白症：198症例\n対照者：395名\n潰瘍性大腸炎：35症例\nクローン病：39症例\n健常対照者：40名\n頭蓋内胚細胞腫瘍：133症例\n対照者：762名\nCOVID-19：30＋43＋15症例\n健常対照者：31＋44＋27名\n健常者：73名\n間質性膀胱炎ハンナ型：144症例\n2型糖尿病：27,642症例（BBJ）\n対照者：70,242名（BBJ）\n2型糖尿病：27,642症例（UKバイオバンク）\n対照者：70,242名（UKバイオバンク）\n不育症：1,728症例\n自己免疫疾患：2,238症例\n対照者：2,919名\nHPV関連中咽頭癌：32症例\nHPV非関連中咽頭癌：17症例\n対照者：2名\n視神経脊髄炎関連疾患：240症例\n対照者：50,578名\n乾癬：204症例\n対照者：1,231名\n日本人男性：161,026名（BBJ、JCTF、TMM、COVC、HERPACC、JPHC）\n日本人男性気管支喘息：3症例\n日本人男性COVID-19：4症例\n重症筋無力症：1,434症例\n対照者：42,913名\nもやもや病：401症例\n多発性硬化症：20症例\n多発性硬化症：688症例（日本人集団）\n対照者：205,199名\n多発性硬化症：27,572症例（ヨーロッパ人集団）\n対照者：1,436,801名\n多発性硬化症：819症例（アフリカ人集団）\n対照者：155,904名\n多発性硬化症：295症例（アメリカ人集団）\n対照者：45,569名\n（日本人、イギリス人、フィンランド人、アフリカ人、アメリカ人）","en":"95 + 103 + 227 + 30 + 141 + 136 + 88 + 5 + 524 individuals\nBBJ: 180,215 individuals\nUK biobank: 377,583 individuals\nFinnGen: 136,000 + 224,352 individuals\nBACC: 247,173 individuals\nPRACTICAL: 140,254 individuals\nAutoimmune pulmonary alveolar proteinosis: 198 cases\nControl participants: 395\nUlcerative Colitis: 35 cases\nCrohn's disease: 39 cases\nHealthy controls: 40 individuals\nIntracranial germ cell tumors: 133 cases\nControl participants: 762\nCOVID-19: 30 + 43 + 15 cases\nHealthy controls: 31 + 44 + 27 individuals\nHealthy subjects: 73 individuals\nHunner-type interstitial cystitis: 144 cases\nType 2 diabetes: 27,642 cases (BBJ)\nControl participants: 70,242 (BBJ)\nType 2 diabetes: 27,642 cases (UK biobank)\nControl participants: 70,242 (UK biobank)\nRecurrent pregnancy loss: 1,728 cases\nAutoimmune diseases: 2,238 cases\nControl participants: 2,919\nHPV-associated oropharyngeal cancer: 32 cases\nNon-HPV-associated oropharyngeal cancer: 17 cases\nControl participants: 2\nNMOSD: 240 cases\nControl participants: 50,578\nPsoriasis: 204 cases\nControl participants: 1,231\nJapanese males: 161,026 (BBJ, JCTF, TMM, COVC, HERPACC, JPHC)\nJapanese male asthma: 3 cases\nJapanese male COVID-19: 4 cases\nMyasthenia gravis: 1,434 cases\nControl participants: 42,913\nMoyamoya disease: 401 cases\nControl participants: 47,255\nmultiple sclerosis (MS): 20 cases\nMS: 688 cases (Japanese)\nControl participants: 205,199\nMS: 27,572 cases (European)\nControl participants: 1,436,801\nMS: 819 cases (African)\nControl participants: 155,904\nMS: 295 cases (American)\nControl participants: 45,569\n(Japanese, British, Finnish, African, American)"},"typeOfData":{"ja":"メタゲノム\nSNP-chip\nNGS\n（WGS、RNA-seq、scRNA-seq、snRNA-seq、snATAC-seq）\neHHV-6の有無、アネロウイルス量\nプロテオミクス","en":"Metagenome, SNP-chip, NGS (WGS, RNA-seq, scRNA-seq, snRNA-seq, snATAC-seq), Presence or absence of endogenous herpesvirus 6, anellovirus load, Proteomics"}},"releaseNote":{"ja":"・日本人集団（多発性硬化症 [multiple sclerosis：MS] 688症例、対照健常者205,199名）、ヨーロッパ人集団（MS27,572症例、対照健常者1,436,801名）、アフリカ人集団（MS819症例、対照健常者155,904名）、アメリカ人集団（MS295症例、対照健常者45,569名）を加えた多祖先集団（MS29,374症例、対照健常者1,843,563名）の末梢血から抽出したDNAを用いたSNPアレイ解析により塩基配列を決定し、検出されたバリアントを対象としたゲノムワイド関連解析要約統計量をtsvファイルにて提供する。\n・多発性硬化症（MS）20症例のscRNA-seq解析の統合データをh5ad形式にて提供する。","en":"DNAs extracted from peripheral blood cells of multiple sclerosis (MS) patients and conrols (688 MS patients and 205,199 controls in the Japanese population, 27,572 MS patients and 1,436,801 controls in the European population, 819 MS patients and 155,904 controls in the African population, and 29,374 MS patients and 1,843,563 controls in the cross-population (293 MS patients and 45,569 controls in the US population was included).) were genotyped and performed genome-wide association study. A tsv file is provided.\n- RNAs extracted from PBMCs of 20 MS patients were subjected to single-cell RNA-seq analysis. Integrated data are provided (h5ad file)."},"dataProviders":[{"name":{"ja":"岡田 随象","en":"Yukinori Okada"},"organization":{"name":{"ja":"大阪大学大学院 医学系研究科 遺伝統計学","en":"Department of Statistical Genetics, Osaka University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"遺伝統計学が紐解く微生物叢・宿主・疾患・創薬のクロストーク","en":"Crosstalk among microbiome, host, disease, and drug discovery enhanced by statistical genetics"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的先端研究開発支援事業 ソロタイプ（PRIME）","en":"Precursory Research for Innovative Medical care (PRIME), Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP19gm6010001"]},{"title":{"ja":"メタゲノムワイド関連解析による疾患特異的微生物叢解明と個別化医療実装","en":"Elucidation of disease-specific microbiota and personalized medicine by metagenome-wide association studies"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的先端研究開発支援事業 ステップタイプ（FORCE）","en":"FORCE, Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20gm4010006"]},{"title":{"ja":"横断的オミクス解析を駆使した肺胞蛋白症の病態解明とインシリコ・リポジショニング創薬","en":"Biology and in silico drug repositioning of pulmonary alveolar proteinosis using trans-layer omics analysis"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare / Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20ek0109413"]},{"title":{"ja":"疾患ゲノム情報を活用した自己免疫疾患における核酸ゲノム創薬の推進","en":"Nucleic genome drug discovery for autoimmune diseases through in-silico and patient-oriented screening utilizing large-scale disease genetics"},"agency":{"ja":"日本医療研究開発機構（AMED） 免疫アレルギー疾患実用化研究事業","en":"Practical Research Project for Allergic Diseases and Immunology, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP19ek0410041"]},{"title":{"ja":"免疫オミクス情報の横断的統合による関節リウマチのゲノム個別化医療の実現","en":"Genomic prediction medicine of rheumatoid arthritis based on comprehensive immune-omics resources"},"agency":{"ja":"日本医療研究開発機構（AMED） 免疫アレルギー疾患実用化研究事業","en":"Practical Research Project for Allergic Diseases and Immunology, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21ek0410075"]},{"title":{"ja":"遺伝統計学に基づく日本人集団のゲノム個別化医療の実装","en":"Implementation of genomic prediction medicine based on statistical genetics"},"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":["JP21km0405211"]},{"title":{"ja":"次世代ゲノミクス研究による乾癬の疾患病態解明・個別化医療・創薬","en":"Next-generation genomics analyses elucidates biology, personalized medicine, and drug discovery of psoriasis"},"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":["JP21km0405217"]},{"title":{"ja":"横断的オミクス解析と全ゲノムシークエンスを駆使した疾患病態と組織特異性の解明","en":"Elucidation of disease biology and tissue specificity by trans-layer omics analysis and whole-genome sequencing"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["19H01021"]},{"title":{"ja":"統合シークエンス解析による免疫アレルギー疾患ダイナミクスの解明","en":"Elucidation of immune and allergic disease dynamics by integrative sequencing analysis"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["22H00476"]}],"relatedPublications":[{"title":"Metagenome-wide association study of gut microbiome revealed novel aetiology of rheumatoid arthritis in the Japanese population.","doi":"https://doi.org/10.1136/annrheumdis-2019-215743","datasets":["JGAD000290"]},{"title":"Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis.","doi":"https://doi.org/10.1038/s41467-021-21011-y","datasets":["NHA000154"]},{"title":"A metagenome-wide association study of gut microbiome in patients with multiple sclerosis revealed novel disease pathology.","doi":"https://doi.org/10.3389/fcimb.2020.585973","datasets":["JGAD000363"]},{"title":"A global atlas of genetic associations of 220 deep phenotypes","doi":"https://doi.org/10.1038/s41588-021-00931-x","datasets":["NHA000162"]},{"title":"Metagenome-wide association study revealed disease-specific landscape of the gut microbiome of systemic lupus erythematosus in Japanese","doi":"https://dx.doi.org/10.1136/annrheumdis-2021-220687","datasets":["JGAD000427"]},{"title":"Whole gut virome analysis of 476 Japanese revealed a link between phage and autoimmune disease","doi":"https://dx.doi.org/10.1136/annrheumdis-2021-221267","datasets":["JGAD000532"]},{"title":"Insights from complex trait fine-mapping across diverse populations","doi":"https://doi.org/10.1101/2021.09.03.21262975","datasets":["NHA000164","NHA000163"]},{"title":"Genetic architecture of microRNA expression and its link to complex diseases in the Japanese population.","doi":"https://doi.org/10.1093/hmg/ddab361","datasets":["JGAD000621","NHA000166"]},{"title":"Multi-trait and cross-population genome-wide association studies across autoimmune and allergic diseases identify shared and distinct genetic components.","doi":"https://doi.org/10.1136/annrheumdis-2022-222460","datasets":["NHA000173"]},{"title":"DOCK2 is involved in the host genetics and biology of severe COVID-19","doi":"https://doi.org/10.1038/s41586-022-05163-5","datasets":["JGAD000662"]},{"title":"Prokaryotic and viral genomes recovered from 787 Japanese gut metagenomes revealed microbial features linked to diets, populations, and diseases","doi":"https://doi.org/10.1016/j.xgen.2022.100219","datasets":["DRA014186","DRA014188","DRA014191","DRA014192","DRA006684","DRA014184","JGAD000290","JGAD000363","JGAD000427","JGAD000532","JGAD000649","JGAD000650"]},{"title":"Reconstruction of the personal information from human genome reads in gut metagenome sequencing data","doi":"https://doi.org/10.1038/s41564-023-01381-3","datasets":["JGAD000363","JGAD000427","JGAD000532","JGAD000650","JGAD000729"]},{"title":"Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis","doi":"https://doi.org/10.1038/s41467-023-39136-7","datasets":["NHA000187"]},{"title":"Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity","doi":"https://doi.org/10.1038/s41588-023-01375-1","datasets":["JGAD000662","JGAD000722"]},{"title":"Genome-wide association analysis identifies susceptibility loci within the major histocompatibility 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metagenomics of lupus patients' microbiomes (Protocol Number IRB0144130)"},"periodStart":"2022-05-12","periodEnd":"2025-01-08","datasets":["JGAD000290","JGAD000363","JGAD000427","JGAD000532"]},{"principalInvestigator":{"en":"Yongxin LI"},"affiliation":{"en":"The department of Chemistry, The University of Hong Kong"},"country":{"ja":"中国","en":"China"},"researchTitle":{"en":"Comparison of gut bacterial diversity and composition in MS/EAE"},"periodStart":"2022-09-26","periodEnd":"2025-06-09","datasets":["JGAD000363"]},{"principalInvestigator":{"ja":"浜田 道昭","en":"Michiaki Hamada"},"affiliation":{"ja":"浜田研究室, 理工学術院, 早稲田大学","en":"Hamada Laboratory, Faculty of Science and Engineering, Waseda University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"RNA標的創薬データベースの構築","en":"Construction of RNA-targeted Drug Discovery Database"},"periodStart":"2023-01-05","periodEnd":"2027-10-31","datasets":["JGAD000290","JGAD000363","JGAD000427","JGAD000532","JGAD000621","JGAD000649","JGAD000650","JGAD000662","JGAD000722","JGAD000729","JGAD000876","JGAD000890","JGAD000925","JGAD001005"]},{"principalInvestigator":{"en":"Tina Fuchs"},"affiliation":{"en":"Institute for Clinical Chemistry, Medical Faculty Mannheim, Heidelberg University"},"country":{"ja":"ドイツ","en":"Germany"},"researchTitle":{"en":"Investigating the clonality of VIREM cells in COVID-19 patients"},"periodStart":"2024-02-26","periodEnd":"2025-04-14","datasets":["JGAD000662","JGAD000722"]},{"principalInvestigator":{"ja":"松田 浩一","en":"Koichi Matsuda"},"affiliation":{"ja":"クリニカルシークエンス分野, 東京大学","en":"Clinical genome sequencing, The University of Tokyo"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"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":"Disease Cohort Research Network for Disease Marker Exploratory 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hematological malignancies"},"summary":{"aims":{"ja":"造血器腫瘍における遺伝子異常の網羅的解析を行い、疾患モデルを用いた薬剤応答性の解析を含め、分子病態を明らかにし、治療成績の向上に資する","en":"To perform comprehensive genomic analysis of hematological malignancies, including drug response analysis using disease models, to elucidate molecular pathogenesis and contribute to improved treatment outcomes."},"methods":{"ja":"自己正常口腔細胞を対照として、急性骨髄性白血病と縦隔胚細胞腫瘍の両腫瘍部位の全エクソーム解析を行い、腫瘍細胞に生じている体細胞変異を解析する。成人T細胞白血病リンパ腫患者5名から1モデルずつ作製したPDX 5モデル（vehicle群、MALT1阻害薬CRD-1441551投与群、各n=3）から腫瘍細胞を採取し、RNA-seq解析を行った。","en":"Whole exome sequencing was performed for both acute myeloid leukemia cells and mediastinal germ cell tumor cells, and somatic mutations of both tumor cells were identified, using normal buccal cells as a control. RNA-seq was performed for tumour cells harvested from 5 adult T-cell leukemia/lymphoma PDX models (vehicle and MALT1 inhibitor CRD-1441551-treated, n=3 per condition)."},"targets":{"ja":"急性骨髄性白血病と縦隔胚細胞腫瘍の合併症例1名、成人T細胞白血病リンパ腫患者5名から1モデルずつ作製したPDX 5モデル","en":"Patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor, 5 PDX models of adult T-cell leukemia/lymphoma, each established from a separate patient (one model per patient)."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"急性骨髄性白血病と縦隔胚細胞腫瘍の合併症例：1症例\n成人T細胞白血病リンパ腫：5症例\n（日本人）","en":"1 patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor\n5 patients with adult T-cell leukemia/lymphoma\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq）","en":"NGS\n(Exome, RNA-seq)"}},"releaseNote":{"ja":"成人T細胞白血病リンパ腫5症例から1モデルずつ作製したPDX 5モデルから採取した腫瘍細胞より抽出したRNAを用いたRNA-seq解析の結果をbamファイルにて提供する。NEBNext Ultra RNA Library Prep KitによりRNAライブラリを作成し、DNBSEQ-G400（MGI Tech）にて平均長150塩基を解読した（paired-end）。","en":"RNAs extracted from tumour cells harvested from 5 adult T-cell leukemia/lymphoma PDX models were used for the RNA-seq analysis. RNA libraries were established with the NEBNext Ultra RNA Library Prep Kit and sequenced by DNBSEQ-G400 (MGI Tech) platform (paired-end; 150 bp). Bam files are provided."},"dataProviders":[{"name":{"ja":"下田 和哉","en":"Kazuya Shimoda"},"organization":{"name":{"ja":"宮崎大学医学部 内科学講座 消化器血液学分野","en":"Division of Gastroenterology and Hematology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki"}}}],"researchProjects":[{"name":{"ja":null,"en":null},"url":{"ja":[{"url":"http://www.med.miyazaki-u.ac.jp/home/2nai/","text":"http://www.med.miyazaki-u.ac.jp/home/2nai/"}],"en":null}}],"grants":[{"title":{"ja":"造血器腫瘍における個別化医療の実現を目指した遺伝子解析パネルの開発","en":"Development of a comprehensive genomic profiling assay for hematological malignancies."},"agency":{"ja":"国立がん研究センター研究開発費","en":"National Cancer Center Research and Development Funds"},"grantIds":["30-A-1"]},{"title":{"ja":"血液腫瘍の発症ハイリスク群同定法の確立","en":"Establishment of a method to identify high-risk groups for the development of hematological tumors."},"agency":{"ja":"宮崎大学医学部附属病院臨床研究支援経費","en":"Grant-in-Aid for Clinical Research from University of Miyazaki Hospital"},"grantIds":["30-GH-3"]},{"title":{"ja":"成人T細胞白血病リンパ腫に対する新規テーラーメイド治療","en":"Novel Taylor-made therapy for adult T-cell leukemia/lymphoma"},"agency":{"ja":"日本医療研究開発機構（AMED） 医療分野研究成果展開事業","en":"Medical Research and Development Programs Focused on Technology Transfers: Development of Advanced Measurement and Analysis Systems (AMED-SENTAN), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP18im0210102"]},{"title":{"ja":"成人T細胞白血病・リンパ腫(ATL)最適化医療の確立とハイリスクキャリアの同定","en":"Establishment of precision medicine for ATL and identification of high risk HTLV-1 carriers"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP19ck0106254"]},{"title":{"ja":"難治性リンパ腫に対するMALT1阻害剤の開発","en":"Development of MALT1 inhibitor for intractable lymphomas"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20ck0106409"]},{"title":{"ja":"遺伝子異常の全貌とクローン構造の理解に基づくATL個別化診療の確立","en":"Establishment of personalized medicine for ATL based on the understanding of the genomic landscape and clonal structure"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ck0106538"]},{"title":{"ja":"ATL新規治療標的同定と、個別化医療への展開","en":"Identification of novel therapeutic targets and development of personalized medicine for ATL"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP23ck0106789"]},{"title":{"ja":"ATL発症マウスモデルの作成と腫瘍生存シグナルの多様性を考慮した精密医療の確立","en":"Development of an ATL mouse model and the establishment of precision medicine that accounts for the diversity of tumor survival signals"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["23K07840"]},{"title":{"ja":"環境細胞との相互作用によるATL発症機序の解明と、分子脆弱性に基づく治療法開発","en":"Elucidation of the mechanism of ATL development through interactions with microenvironmental cells, and development of therapeutic strategies based on molecular vulnerabilities"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["26K02444"]}],"relatedPublications":[{"title":"TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia.","doi":"https://doi.org/10.1186/s12885-019-6497-0","datasets":["JGAD000297"]},{"title":"The requirement of MALT1 activity for the growth of adult T-cell leukemia/lymphoma","doi":"https://doi.org/10.1016/j.isci.2026.116850","datasets":["JGAD001065"]}],"datasets":["JGAD000297","JGAD001065"],"controlledAccessUsers":[]},{"id":"hum0574","version":1,"url":"https://humandbs.dbcls.jp/research/hum0574/v1","datePublished":"2026-07-24","versions":[{"version":1,"datePublished":"2026-07-24"}],"title":{"ja":"悪性腫瘍におけるゲノム解析データベース構築に関する研究","en":"Construction of a genome analysis database for malignant tumors"},"summary":{"aims":{"ja":"悪性腫瘍における包括的なゲノム解析データベースを構築し、悪性腫瘍の病態を多角的に解析することにより、ゲノム情報と臨床経過との関連の解明、人工知能を用いた診断技術の開発、新規治療の開発を行うこと。","en":"To build a comprehensive genome analysis database for malignant tumors and to analyze the pathology of malignant tumors from multiple angles, thereby clarifying the relationship between genome information and clinical course, developing diagnostic techniques using artificial intelligence, and developing new treatments."},"methods":{"ja":"新鮮凍結組織からRNeasy Plus Universal Mini Kitを用いて抽出したtotal RNAを対象としたRNA sequencing、FFPE 組織および新鮮凍結組織から、それぞれMaxwell RSC DNA FFPE KitおよびMaxwell RSC Tissue DNA Kit（Promega, Madison, WI, USA）を用いて抽出したDNAを対象とした全エクソームシークエンス","en":"Total RNA extracted from fresh frozen tissues using the RNeasy Plus Universal Mini Kit was used for RNA sequencing. Genomic DNA extracted from the FFPE and from fresh-frozen tissues using the Maxwell RSC DNA FFPE Kit and Maxwell RSC Tissue DNA Kit (Promega, Madison, WI, USA), respectively was used for whole exome sequencing."},"targets":{"ja":"直腸がん：2症例（POLE変異陽性直腸がんとPOLE変異陰性直腸がん）、BRCA1/2のgermline病的バリアントを有する胃腺がん：4例","en":"Two patients with rectal cancer (one with POLE mutation-positive, the other one with POLE mutation-negative), four patients with histologically confirmed gastric adenocarcinoma who were carriers of germline pathogenic variants (GPVs) in BRCA1/2 detected by germline BRCA1/2 testing."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"直腸癌：2症例\n胃腺癌：4症例\n（日本人）","en":"rectal cancer: 2 cases\ngastric adenocarcinoma: 4 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq）","en":"NGS\n(Exome, RNA-seq)"}},"releaseNote":{"ja":"直腸がん2症例の腫瘍組織から抽出したRNAを用いたRNA sequencing解析データ、ならびに、胃腺がん4症例の腫瘍組織および非腫瘍組織から抽出したDNAを用いたwhole exome sequencing解析データをfastqおよびtabファイルにて提供する。","en":"RNA extracted from tumor tissues from two patients with rectal cancer was used for the RNA sequencing analysis. DNA extracted from tumor and non-tumor tissues from four patients with gastric adenocarcinoma was used for the whole exome sequencing analysis. Fastq and tab files are provided."},"dataProviders":[{"name":{"ja":"島田 能史","en":"Yoshifumi Shimada"},"organization":{"name":{"ja":"新潟大学大学院医歯学総合研究科 消化器・一般外科学","en":"Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences"}}},{"name":{"ja":"市川 寛","en":"Hiroshi Ichikawa"},"organization":{"name":{"ja":"新潟大学大学院医歯学総合研究科 消化器・一般外科学","en":"Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences"}}}],"researchProjects":[],"grants":[{"title":{"ja":"直腸癌の化学放射線療法の治療効果に関わる免疫応答の変化に着目した分子機構の解明","en":"Elucidation of the molecular mechanisms underlying the response to chemoradiotherapy in rectal cancer through analysis of dynamic immune responses"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["25K11923"]},{"title":{"ja":"胚細胞性相同組換え修復遺伝子異常を伴う胃癌の分子生物学的特徴と臨床転帰の解明","en":"Molecular Characteristics and Clinical Outcome of Gastric Cancer with Germline Mutation in Homologous Recombination Repair Genes"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["25K12021"]}],"relatedPublications":[],"datasets":["JGAD001063","JGAD001064"],"controlledAccessUsers":[]},{"id":"hum0588","version":1,"url":"https://humandbs.dbcls.jp/research/hum0588/v1","datePublished":"2026-07-19","versions":[{"version":1,"datePublished":"2026-07-19"}],"title":{"ja":"ヒトiPS細胞における正確なゲノム編集条件の探索による疾患モデルおよび細胞移植治療法の開発","en":"Development of Disease Models and Cell Transplantation Therapies through the Optimization of Precise Genome Engineering in Human iPS Cells"},"summary":{"aims":{"ja":"ゲノムの編集により、iPS細胞に心筋症に関わる遺伝子の変異を導入し、心筋細胞へと分化させて心筋症のモデルを作製し、発症機序を探る。","en":"By engineering the genome, we will introduce mutations in genes into iPS cells to model cardiomyopathy."},"methods":{"ja":"RNeasy Mini Kit（Qiagen, 74104）を用いて未分化iPS細胞もしくは分化誘導した心筋細胞から抽出したtotal RNAを対象としたRNA-seq解析","en":"Total RNA extracted by using of the RNeasy Mini Kit (Qiagen, 74104) was used for RNA-seq analysis."},"targets":{"ja":"京都大学iPS細胞研究所で樹立された、健常者由来iPS細胞HPS0076（409B2）の未分化状態、および心筋細胞に分化誘導した細胞（RNA抽出から独立したtriplicate）ならびに、健常者由来iPS細胞WTC11とHPS0076の細胞融合により樹立した4倍体iPS細胞の未分化状態、および心筋細胞に分化誘導した細胞（RNA抽出から独立したtriplicate）。","en":"HPS0076 (409B2), an iPS cell line derived from a healthy individual, in its undifferentiated state and after differentiation into cardiomyocytes. The undifferentiated state and after differentiation into cardiomyocytes of tetraploid iPS cells established by cell fusion of HPS0076 and WTC11. Three independent RNA extractions for each condition."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"未分化iPS細胞および分化誘導した心筋細胞：12検体\n（細胞株）","en":"undifferentiated iPS cells and differentiated cardiomyocytes: 12 samples\n(Cell-line)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"健常者由来iPS細胞（HPS0076）の未分化細胞および分化誘導した心筋細胞、ならびに、 別の健常者由来iPS細胞（WTC11）とHPS0076の細胞融合により樹立した4倍体iPS細胞の未分化細胞および分化誘導した心筋細胞から抽出したRNAを用いたRNA-seq解析データをfastqファイル形式で提供する。","en":"RNAs extracted from undifferentiated iPS cells and differentiated cardiomyocytes of HPS0076 and tetraploid iPS cells established by cell fusion of HPS0076 and WTC11 were used for the RNA sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"宮岡 佑一郎","en":"Yuichiro Miyaoka"},"organization":{"name":{"ja":"東京都医学総合研究所","en":"Tokyo Metropolitan Institute of Medical Science"}}}],"researchProjects":[{"name":{"ja":"再生医療プロジェクト","en":"Regenerative Medicine Project"},"url":{"ja":[{"url":"https://www.igakuken-regmed.com/","text":"https://www.igakuken-regmed.com/"}],"en":[{"url":"https://www.igakuken-regmed.com/","text":"https://www.igakuken-regmed.com/"}]}}],"grants":[{"title":{"ja":"細胞種により異なる倍数性の意義をiPS細胞モデルにより追究する","en":"Elucidating the Significance of Cell Type-Specific Ploidy Using iPSC Models"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["24K02028"]},{"title":{"ja":"マウスの交配のように自在なヒトiPS細胞間の遺伝子交換手法の開発","en":"Flexible gene exchange method between human iPS cell lines like mouse breeding"},"agency":{"ja":"科学研究費助成事業 挑戦的研究（萌芽）","en":"KAKENHI Grant-in-Aid for Challenging Research (Exploratory)"},"grantIds":["24K21954"]},{"title":{"ja":"心筋細胞の4倍体化を忠実に再現するiPS細胞心筋症モデルの開発","en":"iPSC-Derived Cardiomyocyte Model That Faithfully Recapitulates Cardiomyocyte Tetraploidization"},"agency":{"ja":"循環器病研究振興財団 バイエル循環器病研究助成","en":"Japan Cardiovascular Research Foundation, The Bayer Scholarship for Cardiovascular Research"},"grantIds":null},{"title":{"ja":"生体心臓を真に再現する4倍体iPS細胞由来心筋細胞モデルの確立","en":"Tetraploid iPSC-Derived Cardiomyocyte Model That Faithfully Recapitulates the In Vivo Heart"},"agency":{"ja":"先進医薬研究振興財団 循環医学分野 一般研究助成","en":"SENSHIN Medical Research Foundation"},"grantIds":null},{"title":{"ja":"4倍体化を再現する iPS 細胞由来心筋細胞による再生医療の革新","en":"Transforming Regenerative Medicine Using iPSC-Derived Cardiomyocytes That Recapitulate"},"agency":{"ja":"テルモ生命科学振興財団 再生医療研究助成","en":"TERUMO Life Science Foundation"},"grantIds":null}],"relatedPublications":[{"title":"Derivation of human post-mitotic cardiomyocytes from tetraploid iPSCs","doi":"https://doi.org/10.1038/s42003-026-10763-2","datasets":["JGAD001067"]}],"datasets":["JGAD001067"],"controlledAccessUsers":[]},{"id":"hum0575","version":1,"url":"https://humandbs.dbcls.jp/research/hum0575/v1","datePublished":"2026-07-16","versions":[{"version":1,"datePublished":"2026-07-16"}],"title":{"ja":"腎癌における網羅的な遺伝子探索研究","en":"Comprehensive gene expression analysis in renal cell carcinoma"},"summary":{"aims":{"ja":"腫瘍発生や進展メカニズムの解明と治療薬の有効性および副作用に関連する遺伝子群の同定、ならびに、より正確で信頼度が高い診断法や治療標的の同定を目的とする。","en":"The goal is to elucidate the mechanisms of tumor initiation and progression, identify gene signatures associated with drug efficacy and adverse effects, and develop more accurate and reliable diagnostic methods and therapeutic targets."},"methods":{"ja":"手術摘出検体（凍結組織切片）より抽出したRNAを用いたRNA-seq解析","en":"RNA extracted from frozen tissue sections obtained from tumor and normal renal cortex specimens was used for RNA-seq analysis."},"targets":{"ja":"腎がんの診断で腎摘除術を受けた201症例","en":"201 patients diagnosed with renal cell carcinoma"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"腎癌：201症例\n（日本人）","en":"renal cell carcinoma: 201 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"腎がんの腫瘍組織および非腫瘍組織から抽出したRNAを用いたRNA-seq解析データをfastq、txtファイル形式で提供する。","en":"RNAs extracted from tumor and non-tumor tissues of renal cell carcinoma patients were used for the RNA sequencing analysis. Fastq and txt files are provided."},"dataProviders":[{"name":{"ja":"加藤 廉平","en":"Renpei Kato"},"organization":{"name":{"ja":"岩手医科大学 泌尿器科学講座","en":"Department of Urology, Iwate Medical University"}}}],"researchProjects":[{"name":{"ja":"腎癌における網羅的な遺伝子探索研究","en":"Comprehensive Genomic Exploration Study in Renal Cell Carcinoma"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"生体内ネットワークの理解による難治性がん克服に向けた挑戦","en":"Challenge toward the Control of Intractable Cancer through Understanding of Molecular, Cellular, and Interorgan Networks"},"agency":{"ja":"JST ムーンショット型研究開発事業","en":"Moonshot R&D Program, Japan Science and Technology Agency (JST)"},"grantIds":["JPMJMS2022"]},{"title":{"ja":"がん抑制因子活性化を利用した治療耐性難治性乳がんに対する治療薬開発のための製剤化検討","en":"First-in-human phase I study of a tumor suppressor-activating therapeutic peptide"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP25ck0106888"]}],"relatedPublications":[],"datasets":["JGAD001057"],"controlledAccessUsers":[]},{"id":"hum0556","version":1,"url":"https://humandbs.dbcls.jp/research/hum0556/v1","datePublished":"2026-06-23","versions":[{"version":1,"datePublished":"2026-06-23"}],"title":{"ja":"肺癌の遺伝子発現解析の生物学的特性ならびに診断・治療におけるバイオマーカーの研究","en":"Research on the biological characteristics of gene expression profiles and biomarkers for diagnosis and treatment in lung cancer"},"summary":{"aims":{"ja":"胸部腫瘍組織および正常組織の解析を通してがんの病態を把握することにより、がんの予防・診断・治療法の確立、さらには新規治療法の開発を目指す","en":"By analyzing thoracic tumor specimens and normal tissues, this study aims to elucidate the pathophysiology of cancer, thereby contributing to cancer prevention, the establishment of diagnostic and therapeutic methods, and the development of novel treatments."},"methods":{"ja":"ChIP-seq解析","en":"ChIP-seq"},"targets":{"ja":"肺がん17症例由来腫瘍組織","en":"Tumor samples from 17 patients with lung cancer"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"ヒストン修飾","en":"Histone modification profiling"},"targets":{"ja":"肺癌：17症例\n（日本人）","en":"lung cancer: 17 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（ChIP-seq）","en":"NGS\n(ChIP-seq)"}},"releaseNote":{"ja":"肺がん17症例のFFPE腫瘍組織24検体から抽出したDNAを用いたChIP-seq解析結果をfastqファイルおよびbedファイルにて提供する。","en":"DNAs extracted from 24 FFPE tumor samples from 17 patients with lung cancer were used for the ChIP-seq analysis. Fastq and bed files are provided."},"dataProviders":[{"name":{"ja":"佐藤 崇","en":"Takashi Sato"},"organization":{"name":{"ja":"北里大学医学部 呼吸器内科学","en":"Department of Respiratory Medicine, Kitasato University School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"エピゲノム解析を用いた各種肺癌の分化プログラムの探索","en":"Exploration of differentiation programs in lung cancers using epigenomic profiling"},"agency":{"ja":"科学研究費助成事業 若手研究","en":"KAKENHI Grant-in-Aid for Early-Career Scientists"},"grantIds":["20K17192"]},{"title":{"ja":"各種肺がんの分化プログラムにおけるマスター制御因子の役割","en":"Exploring the roles of master regulators in differentiation programs of various lung cancers"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["23K07609"]},{"title":{"ja":"肺神経内分泌腫瘍におけるMYCファミリー癌遺伝子に関連したバイオマーカー探索","en":"Search for MYC-related biomarkers for lung neuroendocrine neoplasms"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["22K08288"]},{"title":{"ja":"肺がんにおける分化プログラムの不均一性と可塑性の解明","en":"Heterogeneity and plasticity of differentiation programs in lung cancer"},"agency":{"ja":"公益財団法人 MSD生命科学財団 研究助成 - がん領域","en":"MSD Life Science Foundation, Public Interest Incorporated Foundation"},"grantIds":null},{"title":{"ja":"肺がんのフェノタイプを規定する分化プログラムの不均一性・可塑性の解明","en":"Deciphering the Heterogeneity and Plasticity of Differentiation Programs that Define Lung Cancer Phenotypes"},"agency":{"ja":"公益財団法人 武田科学振興財団 医学系研究助成","en":"Medical Research Grant, Takeda Science Foundation"},"grantIds":null},{"title":{"ja":"肺がんの進展・適応過程における可塑性に関する研究","en":"Investigating Plasticity in Lung Cancer Progression and Adaptation"},"agency":{"ja":"公益財団法人 内藤記念科学振興財団 内藤記念科学奨励金・研究助成","en":"The Naito Foundation"},"grantIds":null}],"relatedPublications":[{"title":"Epigenomic profiling of neuroendocrine lung cancers identifies a classical-neuroendocrine ASCL1/NKX2-1 subtype and a SOX11-associated differentiation axis linked to reduced immunogenicity","doi":"https://doi.org/10.1016/j.lungcan.2026.109464","datasets":["JGAD001047"]}],"datasets":["JGAD001047"],"controlledAccessUsers":[]},{"id":"hum0427","version":2,"url":"https://humandbs.dbcls.jp/research/hum0427/v2","datePublished":"2026-06-16","versions":[{"version":1,"datePublished":"2023-11-02"},{"version":2,"datePublished":"2026-06-16"}],"title":{"ja":"頭頸部悪性腫瘍細胞株の樹立 / 頭頸部悪性腫瘍に対する網羅的遺伝子解析およびデータベースの構築","en":"Establishment of cell lines derived from head and neck malignancies / Comprehensive genetic analysis and database construction for head and neck malignancies"},"summary":{"aims":{"ja":"頭頸部領域悪性腫瘍の発生部位は、咽頭、喉頭、口腔、鼻・副鼻腔、唾液腺、甲状腺、側頭骨等と多岐にわたり、それぞれの発生部位により分子生物学的特徴が異なる。そのため、それぞれの腫瘍の分子生物学的特性に合わせたテーラーメイドの治療の確立が必要である。しかしながら、多くの研究者が細胞バンクの細胞株を利用しているが、細胞バンクから入手可能な頭頚部悪性腫瘍の細胞株は部位、組織型ともに限られており、特に希少がんの細胞株入手は困難である。本研究では、①頭頸部悪性腫瘍組織および患者由来血液の網羅的遺伝子解析を行い、そのデータベースを構築すること、②頭頸部悪性腫瘍の細胞株を樹立後免疫不全動物へ移植し、生着・増殖の可否を検討すること、③樹立した細胞株を細胞バンクへ寄託・譲渡し、多くの研究者が利用可能にすることで、頭頚部悪性腫瘍、特に希少がんについて病態の解明や治療法確立に向けての研究を推進すること、を目的とする。各々の遺伝子解析で得られた知見を多角的に検討することにより、頭頸部悪性腫瘍特異的に関与するがん関連遺伝子や発生母地特異的にみられる遺伝子変異の検索を行うことで、がん関連遺伝子発現もしくは遺伝子変異と予後との相関を明らかにすることにより、頭頸部悪性腫瘍の発がんや進展のメカニズムの解明や、再発・転移予測マーカーの同定、新規分子標的治療の確立を目指す。","en":"- Head and neck malignancies originate in a wide variety of locations, including the pharynx, larynx, oral cavity, nose and paranasal sinuses, salivary glands, thyroid gland, and temporal bone. Their molecular biological characteristics differ depending on the location of origin. Therefore, it is necessary to establish a tailored treatment that is tailored to the molecular biological characteristics of each tumor. In the field of oncology, many researchers generally use cell lines obtained from cell banks. However, cell lines for head and neck malignancies available from cell banks are limited especially for rare-type cancers, resulting in difficulties in elucidation of biological characterization of such malignancies and establishment of therapeutic strategies. This study aimed to 1) conduct comprehensive genetic analysis of head and neck malignant tumor tissues and patient-derived blood, 2) establish cell lines of head and neck malignancies and to examine their tumorigenic abilities in immune-deficient animals, 3) deposit to cell banks. Using multi-omics approaches, we seek to elucidate the molecular mechanisms of oncogenes and to develop biomarkers for recurrence and metastasis prediction, as well as strategies for novel targeted therapies."},"methods":{"ja":"- 外耳道扁平上皮がん症例の末梢血単核細胞、原発腫瘍組織、原発巣腫瘍組織から樹立した細胞株、それぞれから抽出したDNAを用いた全エクソーム解析\n- 側頭骨扁平上皮がん症例の原発巣腫瘍組織、正常皮膚組織それぞれから抽出したDNAを対象とするH3K27AcおよびYAP抗体を用いたChIP-seq解析","en":"- Genomic DNAs extracted from peripheral blood mononuclear cells (PBMC), the primary tumor tissues, and the cell line were used for whole exome sequencing analysis.\n- Chromatin immunoprecipitation (ChIP) sequencing using H3K27Ac and YAP antibodies"},"targets":{"ja":"- 外耳道扁平上皮がん患者1名から採取した末梢血単核細胞、腫瘍原発巣組織、および腫瘍原発巣組織から樹立した細胞株。細胞株は細胞株（SCEACono2）として理化学研究所バイオリソース研究センターに寄託済（https://cellbank.brc.riken.jp/cell_bank/CellInfo/?cellNo=RCB5515&lang=En）。\n- 側頭骨扁平上皮がん5症例の原発巣腫瘍組織ならびに正常皮膚組織","en":"- PBMC and the primary tumor tissues were collected from a patient with external auditory canal squamous cell carcinoma, and a cell line was established from the primary tumor tissues. The cell line was deposited as SCEACono2 in RIKEN BioResource Research Center (https://cellbank.brc.riken.jp/cell_bank/CellInfo/?cellNo=RCB5515&lang=En).\n- Five patients with temporal bone squamous cell carcinoma"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\nヒストン修飾","en":"Sequencing, Histone modification profiling"},"targets":{"ja":"外耳道扁平上皮癌：1症例\n側頭骨扁平上皮癌：5症例\n（日本人）","en":"external auditory canal squamous cell carcinoma: 1 case\ntemporal bone squamous cell carcinoma: 5 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、ChIP-seq）","en":"NGS\n(Exome, ChIP-seq)"}},"releaseNote":{"ja":"側頭骨扁平上皮がん5症例の原発巣腫瘍組織ならびに正常皮膚組織より抽出したDNAに対してH3K27Ac抗体もしくはYAP抗体を用いたChIP-seq解析データをfastqファイルにて提供する。","en":"DNAs extracted from tumor and non-tumor tissues of 5 patients with temporal bone squamous cell carcinoma were used for ChIP-seq analysis using anti-H3K27Ac and YAP antibodies. Fastq files are provided."},"dataProviders":[{"name":{"ja":"中川 尚志","en":"Takashi Nakagawa"},"organization":{"name":{"ja":"九州大学大学院医学研究院 耳鼻咽喉科学分野","en":"Department of Otorhinolaryngology, Graduate School of Medical Sciences, Kyushu University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"側頭骨扁平上皮癌の網羅的組織解析に基づく新規統合的治療戦略の開発","en":"Development of novel synthesizing treatment strategy by exhaustive research on temporal bone squamous cell carcinoma"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["18H02951"]},{"title":{"ja":"側頭骨扁平上皮癌の悪性度を決定するエピジェネティックな腫瘍制御機構の解明","en":"Elucidation of epigenetic tumor control mechanisms that determine the malignancy of squamous cell carcinoma of the temporal bone"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["22H03236"]},{"title":{"ja":"側頭骨扁平上皮癌におけるNLRP3インフラマゾーム機構を介した転移制御機構の解明","en":"Elucidation of the Metastasis Regulatory Mechanism via NLRP3 Inflammasome Pathway in Temporal Bone Squamous Cell Carcinoma"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["22K09745"]},{"title":{"ja":"頭頸部扁平上皮癌の浸潤・転移に関わる転写リプログラミング機構の解明","en":"Investigation of transcriptional reprogramming mechanisms involved in invasion and metastasis of head and neck squamous cell caricnoma"},"agency":{"ja":"科学研究費助成事業 若手研究","en":"KAKENHI Grant-in-Aid for Early-Career Scientists"},"grantIds":["20K18300"]},{"title":{"ja":"マルチオミクス解析による外耳道扁平上皮癌の進展に寄与する転写制御機構の解明","en":"Elucidation of Transcriptional Regulatory Mechanisms Contributing to the Progression of Squamous Cell Carcinoma of the External Auditory Canal via Multi-omics Analysis"},"agency":{"ja":"一般財団法人 曽田豊二記念財団 研究助成金","en":"Research Grant, Soda Toyoji Memorial Foundation"},"grantIds":null},{"title":{"ja":"頭頸部扁平上皮癌の浸潤及び転移に寄与するYAP1を介した転写リプログラミング機構の解明","en":"Elucidation of the YAP1-mediated transcriptional reprogramming mechanism contributing to invasion and metastasis in head and neck squamous cell carcinoma"},"agency":{"ja":"公益財団法人 武田科学振興財団 医学系研究助成","en":"Medical Research Grant, Takeda Science Foundation"},"grantIds":null},{"title":{"ja":"多層オミックス解析による頭頸部がんの進展に関わる転写リプログラミング機構の解明","en":"Exploring Transcriptional Reprogramming Mechanisms Underlying Head and Neck Cancer Progression via Multi-omics Analysis"},"agency":{"ja":"公益財団法人新日本先進医療研究財団 研究助成金","en":"Cancer Research Grant, Shinnihon Foundation of Advanced Medical Treatment Research"},"grantIds":null},{"title":{"ja":"頭頸部扁平上皮癌の浸潤及び転移に寄与する転写リプログラミング機構の解明","en":"Elucidation of Transcriptional Reprogramming Mechanisms involved in Invasion and Metastasis in Head and Neck Squamous Cell Carcinoma"},"agency":{"ja":"公益財団法人SGH財団 第33回SGHがん研究助成","en":"Cancer Research Grant, SGH Foundation"},"grantIds":null}],"relatedPublications":[{"title":"Establishment and characterization of a primary cell culture derived from external auditory canal squamous cell carcinoma","doi":"https://doi.org/10.1002/2211-5463.13225","datasets":["JGAD000775"]},{"title":"Aberrant Hippo-YAP/TEAD Signaling Drives Malignant Transcriptional Reprogramming in External Auditory Canal Squamous Cell Carcinoma","doi":"https://doi.org/10.1158/2767-9764.crc-25-0626","datasets":["JGAD000775"]}],"datasets":["JGAD000775"],"controlledAccessUsers":[]},{"id":"hum0543","version":1,"url":"https://humandbs.dbcls.jp/research/hum0543/v1","datePublished":"2026-06-10","versions":[{"version":1,"datePublished":"2026-06-10"}],"title":{"ja":"大腸癌における大規模ゲノム構造異常と癌ゲノム進化に関する研究","en":"Research on Large-Scale Genomic Structural Abnormalities and Cancer Genome Evolution in Colorectal Cancer"},"summary":{"aims":{"ja":"近年、全ゲノム重複は進行がんでもみられ、がんの転帰に関連するマクロ進化学的事象であることが示されている。しかしながら、全ゲノム重複による大規模なゲノム構造異常ががんゲノム進化にどう寄与するかは未だ不明な点が多い。大腸がんは、正常大腸粘膜上皮に複数のがん遺伝子・がん抑制遺伝子の異常が蓄積した結果、腺腫・粘膜内がん・浸潤がんへと進展していく多段階発がんが提唱され、発がんメカニズムが最もよく解明されている腫瘍の一つであるが、大腸がんにおいては全ゲノム重複などの大規模ゲノム構造異常が発がんに寄与するメカニズムの解明は進んでいない。本研究では、大腸がん組織を研究試料とし、多段階発がん過程における全ゲノム重複・染色体構造異常等の発生をmulti-region sequencing解析により推定し、がんの不均一性とがんクローンの進化との関連や腫瘍の進行・転移との関連を明らかにすることを目的とする。","en":"Although colorectal cancer is one of the tumors with the best-understood carcinogenesis mechanisms, proposed as a multistage process where multiple cancer genes and tumor suppressor gene abnormalities accumulate in normal colonic mucosal epithelium, leading to progression through adenoma, mucosal carcinoma, and invasive carcinoma, the mechanisms by which large-scale genomic structural abnormalities, such as whole-genome duplication, contribute to carcinogenesis remain poorly understood. This study aims to estimate the occurrence of chromosomal structural abnormalities during the multistage carcinogenesis process. It seeks to elucidate the relationship between cancer heterogeneity and the evolution of cancer clones, as well as the association with tumor progression and metastasis."},"methods":{"ja":"全ゲノムシークエンス","en":"whole genome sequencing"},"targets":{"ja":"大腸がん 62症例","en":"62 patients with colorectal cancer"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"大腸癌：62症例\n（日本人）","en":"colorectal cancer: 62 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS）","en":"NGS\n(WGS)"}},"releaseNote":{"ja":"大腸がん62症例のFFPE標本もしくは凍結標本から切除した腫瘍組織および非腫瘍組織から抽出したDNAを用いたwhole genome sequencing解析の結果をfastqファイルにて提供する。","en":"DNAs extracted from tumor and non-tumor tissues of 62 patients with colorectal cancer were used for the whole genome sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"谷内田 真一","en":"Shinichi Yachida"},"organization":{"name":{"ja":"大阪大学 がんゲノム情報学","en":"Department of Cancer Genome Informatics, Graduate School of Medicine, Osaka University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"国際共同研究に資する大規模日本人がんゲノム・オミックス・臨床データ統合解析とゲノム予防・医療推進","en":"Integrated Analysis of Large-Scale Japanese Cancer Genomic, Multi-Omics, and Clinical Data to Advance Precision Prevention and Genomic Medicine through International Collaboration"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP25ck0106800"]},{"title":{"ja":"大腸癌ハイリスク患者の癌発症に関わる腸内環境変動の解明とそれに基づく大腸癌個別化予防法の開発に関する研究","en":"Deciphering Gut Microenvironmental Dynamics Associated with Colorectal Carcinogenesis in High-Risk Individuals and Developing Personalized Strategies for Colorectal Cancer Prevention"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ck0106546"]},{"title":{"ja":"大腸癌超ハイリスク群における便ならびに生検組織を用いた腸内環境理解に基づく大腸癌個別化予防法の開発","en":"Development of Personalized Colorectal Cancer Prevention Strategies Based on Integrated Characterization of the Gut Ecosystem Using Stool and Biopsy Specimens from Ultra-High-Risk Individuals"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP25ck0106799"]},{"title":{"ja":"オールジャパン体制による食道がん等消化器難治がんの全ゲノム配列データ及び臨床情報による先端的創薬開発・全ゲノム医療基盤構築","en":"Establishment of a Nationwide Whole-Genome Medicine Platform and Development of Innovative Therapeutics for Refractory Gastrointestinal Cancers through Comprehensive Integration of Whole-Genome Sequencing and Clinical Data"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP25ck0106874"]},{"title":{"ja":"日本人がんゲノム・オミックス統合解析による革新的な予防・診断・治療推進に資する大規模国際共同研究","en":"Large-Scale International Collaborative Research Leveraging Integrated Cancer Genomic and Multi-Omics Analyses in Japanese Populations to Advance Innovative Prevention, Diagnosis, and Treatment"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP26ck0106162"]},{"title":{"ja":"腸内細菌解析による抗悪性腫瘍剤の有害作用発現予測に関する研究開発","en":"Development of Gut Microbiome-Based Predictive Biomarkers for Adverse Events Associated with Anticancer Therapies"},"agency":{"ja":"日本医療研究開発機構（AMED）次世代がん医療創生研究事業（P-CREATE）","en":"Project for Cancer Research and Therapeutic Evolution (P-CREATE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21cm0106477"]},{"title":{"ja":"食事、腸内細菌、炎症の多面的解析に基づく若年発症大腸癌の本態解明と易罹患性・早期診断検査法の開発","en":"Elucidating the Etiology of Early-Onset Colorectal Cancer through Integrated Analyses of Diet, Gut Microbiota, and Inflammation, and Developing Risk Assessment and Early Detection Strategies"},"agency":{"ja":"日本医療研究開発機構（AMED）次世代がん医療加速化研究事業（P-PROMOTE）","en":"Project for Promotion of Cancer Research and Therapeutic Evolution (P-PROMOTE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP25ama221430"]},{"title":{"ja":"日米医学協力計画を基軸とした感染関連がんに関する疾患研究","en":"Disease-Oriented Research on Infection-Associated Cancers under the Framework of the U.S.-Japan Cooperative Medical Sciences Program"},"agency":{"ja":"日本医療研究開発機構（AMED）地球規模保健課題解決推進のための研究事業","en":"Research Program on the challenges of Global Health issues, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP23jk0210009"]},{"title":{"ja":"腸管局所マイクロバイオームの「個人差・性差」が大腸「未病状態」に及ぼす影響の解明と未病抑制戦略の開発","en":"Elucidating the Impact of Individual and Sex-Specific Variations in the Local Intestinal Microbiome on the Colorectal Pre-Disease State and Developing Microbiome-Based Preventive Strategies"},"agency":{"ja":"日本医療研究開発機構 革新的先端研究開発支援事業（AMED-CREST）","en":"Core Research and Evolutional Science and Technology, Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED-CREST)"},"grantIds":["JP26gm2010009"]},{"title":{"ja":"The ELDER Study：臓器老化の高精度測定によるがん発症タイミングの解明","en":"The ELDER Study: Defining the Timing of Cancer Initiation through High-Resolution Quantification of Organ-Specific Aging"},"agency":{"ja":"日本医療研究開発機構（AMED）医療分野国際科学技術共同研究開発推進事業（先端国際共同研究推進プログラム（ASPIRE））","en":"Advanced International Collaborative Research Program - Adopting Sustainable Partnerships for an Innovative Research Ecosystem (ASPIRE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP26jf0126022"]},{"title":{"ja":"家族性大腸腺腫症を対象にしたメタゲノム解析とそれに基づく大腸癌発症進展機構の解明","en":"Metagenomic Characterization of Familial Adenomatous Polyposis and Its Application to Elucidating Mechanisms of Colorectal Tumor Initiation and Progression"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["20H03662"]},{"title":{"ja":"大腸Serrated pathwayにおける腸内環境変動の解明","en":"Characterization of Gut Microenvironmental Alterations Along the Serrated Pathway of Colorectal Tumorigenesis"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["23H02892"]}],"relatedPublications":[{"title":"Prevalence and chronology of colibactin-associated mutational processes and their microbiome spectra in Japanese colorectal cancer","doi":"https://doi.org/10.52843/cassyni.86lmq6","datasets":["JGAD001015"]}],"datasets":["JGAD001015"],"controlledAccessUsers":[]},{"id":"hum0214","version":10,"url":"https://humandbs.dbcls.jp/research/hum0214/v10","datePublished":"2026-06-09","versions":[{"version":1,"datePublished":"2020-10-09"},{"version":2,"datePublished":"2021-03-05"},{"version":3,"datePublished":"2021-04-28"},{"version":4,"datePublished":"2022-01-21"},{"version":5,"datePublished":"2022-03-09"},{"version":6,"datePublished":"2022-08-25"},{"version":7,"datePublished":"2023-03-28"},{"version":8,"datePublished":"2023-07-06"},{"version":9,"datePublished":"2024-02-08"},{"version":10,"datePublished":"2026-06-09"}],"title":{"ja":"ヒト免疫系の機能ゲノム学による統合的理解とこれを用いた免疫疾患の発症予防のためのインターベンション戦略の構築","en":"Integrative understanding of human immune system by functional genomics and development of intervention strategies for the prevention of autoimmune diseases"},"summary":{"aims":{"ja":"免疫細胞における遺伝子発現制御と免疫疾患に対する寄与を解明する","en":"To elucidate the regulation of gene expression in each immune cell subset and its contribution to autoimmune diseases."},"methods":{"ja":"JGAS000220（JGAD000309、JGAD000310）：全身性強皮症21症例、antineutrophil cytoplasmic antibody（ANCA）関連血管炎26症例、対照健常者28名の末梢血免疫細胞画分を分取し各画分から抽出したtotal RNAを用いたRNA-seqを実施した。\nE-GEAD-397 / E-GEAD-398 / E-GEAD-420：全身性エリテマトーデス、筋炎、全身性強皮症、混合性結合組織病、シェーグレン症候群、関節リウマチ、ベーチェット病、成人スチル病、ANCA関連血管炎、高安動脈炎、対照健常者の全血及び末梢血免疫細胞28画分を分取し、全血より全ゲノムシーケンス、各画分サンプルを用いてRNA-seqを実施した。サンプルのフィルタリングと遺伝子発現量の標準化の上で、各免疫細胞画分でeQTL解析を実施した。\nJGAS000296：全身性強皮症50症例、対照健常者48名の末梢血免疫細胞24画分を分取し、各画分サンプルを用いてRNA-seqを実施した。遺伝子発現量を定量し、サンプルのフィルタリングを行った。\nJGAS000220（JGAD000371、JGAD000372、JGAD000373）：全身性エリテマトーデス、対照健常者の末梢血免疫細胞19画分を分取し、各画分サンプルを用いてRNA-seqを実施した。末梢血免疫細胞15画分でATAC-seqを実施した。\nJGAS000486：全身性エリテマトーデス、対照健常者の末梢血免疫細胞27画分を分取し、各画分サンプルを用いてRNA-seqを実施した。\nJGAS000598：関節リウマチ50症例、対照健常者39名の末梢血免疫細胞18画分を分取し、各画分サンプルを用いてRNA-seqを実施した。関節リウマチ15症例については、経時的な解析を実施した。\nJGAS000485：全身性エリテマトーデス、全身性強皮症、筋炎、混合性結合組織病、シェーグレン症候群、関節リウマチ、ベーチェット病、成人スチル病、ANCA関連血管炎、高安動脈炎、対照健常者の末梢血B細胞5画分を分取した。各画分サンプルを用いてRNA-seqを実施し、B細胞受容体配列のマッピングを実施した。\nJGAS000626：関節リウマチ19症例、全身性エリテマトーデス62症例、特発性炎症性筋疾患40症例、対照健常者64名の末梢血免疫細胞9画分を分取し、各画分サンプルを用いてRNA-seqを実施した。遺伝子発現量を定量し、サンプルのフィルタリングを行った。\nJGAS000627：全身性エリテマトーデス136症例、対照健常者89名の末梢血免疫細胞27画分を分取し、各画分サンプルを用いてRNA-seqを実施した。遺伝子発現量を定量し、サンプルのフィルタリングを行った。\nJGAS000648：炎症性筋疾患6症例、対照健常者1名から末梢血・筋組織・気管支洗浄液を採取した。末梢血についてはCD4T細胞を分取し、scRNA-seqを実施し遺伝子発現量を定量した。筋組織・気管支洗浄液についてはCD45陽性細胞を分取し、scRNA-seqを実施し遺伝子発現量を定量した上でCD4Tクラスターに属する細胞のみを抽出した。\nJGAS000762：全身性エリテマトーデス137症例、全身性強皮症89症例、筋炎85症例、混合性結合組織病19症例、シェーグレン症候群18症例、関節リウマチ25症例、ベーチェット病23症例、成人スチル病18症例、ANCA関連血管炎24症例、高安動脈炎16症例、対照健常者134名の末梢血T細胞画分13画分を分取した。各画分サンプルを用いてRNA-seqを実施し、T細胞受容体配列のマッピングを実施した。","en":"JGAS000220 (JGAD000309, JGAD000310): Various immune cell subsets from 21 systemic sclerosis patients, 26 ANCA associated vasculitis, and 28 healthy controls were collected (Naive_B, SM_B, USM_B, DN_B, Plasmablast, Th1, Th2, Th17, Tfh, Naive_CD4, Mem_CD4, Fr._II_eTreg, Naive_CD8, Mem_CD8, mDC, pDC, CD16p_Mono, CD16n_Mono, NK, Neu) and total RNAs were extracted from each subset. RNA-seq was performed for each sample.\nE-GEAD-397 / E-GEAD-398 / E-GEAD-420: Whole blood and 28 immune cell subsets from study population were collected (Naive_CD4, Mem_CD4, Fr._I_nTreg, Fr._II_eTreg, Fr._III_T, Th1, Th2, Th17, Tfh, NK, Naive_CD8, Mem_CD8, EM_CD8, CM_CD8, TEMRA_CD8, Naive_B, USM_B, SM_B, DN_B, Plasmablast, CL_Mono (or CD16n_Mono), CD16p_Mono, Int_Mono, NC_Mono, mDC, pDC, LDG, Neu). Whole genome sequencing was performed with whole blood samples. RNA-seq was performed with each immune cell subset samples. After filtering and normalization of the gene expression data, eQTL analysis was performed in each immune cell type.\nJGAS000296: 24 peripheral blood immune cell subsets from 50 systemic sclerosis patients and 48 healthy controls were collected (Naive_CD4, Mem_CD4, Fr._I_nTreg, Fr._II_eTreg, Fr._III_T, Th1, Th2, Th17, Tfh, NK, Naive_CD8, EM_CD8, CM_CD8, TEMRA_CD8, Naive_B, USM_B, SM_B, DN_B, Plasmablast, CL_Mono, Int_Mono, NC_Mono, mDC, pDC). RNA-seq was performed with each immune cell subset samples. After gene expression quantification samples were filtered.\nJGAS000220 (JGAD000371, JGAD000372, JGAD000373): 19 immune cell subsets from study population were collected (Naive_CD4, Mem_CD4, Fr._II_eTreg, Th1, Th2, Th17, Tfh, NK, Naive_CD8, Mem_CD8, Naive_B, USM_B, SM_B, DN_B, Plasmablast, CD16n_Mono, CD16p_Mono, mDC, pDC). RNA-seq was performed with each immune cell subset sample. ATAC-seq of 15 immune cell subsets was also performed.\nJGAS000486: Various peripheral blood immune cell subsets from 89 healthy volunteers and 136 systemic lupus erhythematosus (SLE) donors were collected (Naive_CD4, Mem_CD4, Th1, Th2, Th17, Tfh, Fr._I_nTreg, Fr._II_eTreg, Fr._III_T, Naive_CD8, EM_CD8, CM_CD8, TEMRA_CD8, NK, Naive_B, USM_B, SM_B, DN_B, Plasmablast, CL_Mono (or CD16n_Mono), CD16p_Mono, Int_Mono, NC_Mono, mDC, pDC, Neu, LDG). 22 SLE patients were analyzed longitudinally. RNA-seq was performed with each immune cell subset samples. After gene expression quantification samples were filtered.\nJGAS000598: Various peripheral blood immune cell subsets from 39 healthy volunteers and 50 rheumatoid (RA) donors were collected (CD16p_Mono, CL_Mono, DN_B, Fr_II_eTreg, mDC, Mem_CD4, Naive_B, Naive_CD4, Neu, NK, pDC, Plasmablast, SM_B, Tfh, Th1, Th17, Th2, USM_B). 15 RA patients were analyzed longitudinally. RNA-seq was performed with each immune cell subset samples. After gene expression quantification samples were filtered.\nJGAS000485: Peripheral blood B cell subsets from study population were collected (Naive_B, USM_B, SM_B, DN_B, Plasmablast). RNA-seq was performed with each B cell subset samples. B cell receptor sequences were aligned.\nJGAS000626: 9 immune cell subsets from study population were collected (Naive_CD4, Th1, Th2, Th17, Tfh, Fr._I_nTreg, Fr._II_eTreg, Fr._III_T, ThA). RNA-seq was performed with each immune cell subset samples. After gene expression quantification samples were filtered.\nJGAS000627: 27 immune cell subsets from study population were collected (Naive_CD4, Th1, Th2, Th17, Tfh, Fr._I_nTreg, Fr._II_eTreg, Fr._III_T, ThA, Naive_CD8, Naive_B, SM_B, USM_B, DN_B, Plasmablast, NK, CD16p_Mono, CL_Mono, Neu, mDC, pDC, TEMRA_CD8, CM_CD8, EM_CD8, NC_Mono, Int_Mono, LDG). RNA-seq was performed with each immune cell subset samples. After gene expression quantification samples were filtered.\nJGAS000648: Peripheral blood, muscle tissue, and bronchial lavage fluid were collected from each subject. For peripheral blood, CD4T cells were collected and scRNA-seq was performed to quantify gene expression. For muscle tissue and bronchial lavage fluid, CD45-positive cells were collected, scRNA-seq was performed, gene expression was quantified, and CD4T cluster was selected.\nJGAS000762: Peripheral blood T cell subsets from study population were collected (Naive_CD4, Mem_CD4, Th1, Th2, Th17, Tfh, Fr._I_nTreg, Fr._II_eTreg, Fr._III_T, Naive_CD8, TEMRA_CD8, CM_CD8, EM_CD8). RNA-seq was performed with each T cell subset samples. T cell receptor sequences were aligned."},"targets":{"ja":"全身性強皮症、全身性エリテマトーデス、筋炎、混合性結合組織病、シェーグレン症候群、関節リウマチ、ベーチェット病、成人スチル病、ANCA関連血管炎、高安動脈炎、対照健常者","en":"Systemic Sclerosis, Systemic Lupus Erythematosus, Myositis, Mixed Connective Tissue Disease, Sjögren's Syndrome, Rheumatoid Arthritis, Behçet's Disease, Adult Onset Still's Disease, ANCA-associated Vasculitis, Takayasu's Arteritis, healthy individuals"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現\neQTL","en":"Expression profiling, eQTL"},"targets":{"ja":"10免疫疾患：544症例\n健常者：185名\n（日本人）","en":"10 Immune-mediated diseases: 544 cases\n185 normal controls\n(Japanese)"},"typeOfData":{"ja":"NGS\n（RNA-seq、scRNA-seq）\neQTL\nB細胞受容体レパトア解析\nT細胞受容体レパトア解析","en":"NGS\n(RNA-seq, scRNA-seq)\neQTL\nBCR repertoire analysis\nTCR repertoire analysis"}},"releaseNote":{"ja":"全身性エリテマトーデス、全身性強皮症、筋炎、混合性結合組織病、シェーグレン症候群、関節リウマチ、ベーチェット病、成人スチル病、ANCA関連血管炎、高安動脈炎、対照健常者の末梢血T細胞13画分を分取した。各画分サンプルを用いてRNA-seqを実施し、T細胞受容体配列のマッピングを実施した。T細胞受容体レパトアデータを提供する（txt）。","en":"13 T cell subsets from Systemic Lupus Erythematosus, Systemic Sclerosis, Myositis, Mixed Connective Tissue Disease, Sjögren's Syndrome, Rheumatoid Arthritis, Behçet's Disease, Adult Onset Still's Disease, ANCA-associated Vasculitis, Takayasu's Arteritis patients and healthy controls were collected. RNA-seq was performed with each T cell subset sample. T cell receptor sequences were aligned. T cell receptor repertoire clonotype data are provided as text files."},"dataProviders":[{"name":{"ja":"藤尾 圭志","en":"Keishi Fujio"},"organization":{"name":{"ja":"東京大学大学院 医学系研究科 アレルギー・リウマチ学","en":"Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo"}}}],"researchProjects":[{"name":{"ja":"免疫疾患の免疫細胞マルチオミクス解析","en":"Immune cell multi-omics analysis of immune-mediated diseases"},"url":{"ja":[{"url":"https://ryumachi.umin.jp/","text":"https://ryumachi.umin.jp/"}],"en":[{"url":"https://www.h.u-tokyo.ac.jp/english/centers-services/clinical-divisions/allergy-and-rheumatology/index.html","text":"https://www.h.u-tokyo.ac.jp/english/centers-services/clinical-divisions/allergy-and-rheumatology/index.html"}]}}],"grants":[{"title":{"ja":"ゲノムおよび遺伝子発現情報の統合的解析に基づく全身性エリテマトーデスの治療標的の同定とその制御法の開発","en":"Identification of therapeutic targets and development of intervention strategy for systemic lupus erythematosus based on the comprehensive analysis of genome and transcriptome."},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare / Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP17ek0109103"]},{"title":{"ja":"免疫担当細胞eQTLデータを用いた免疫介在性疾患ゲノム情報からの層別化および予後予測モデルの構築","en":"Construction of stratification and prognosis prediction models from immune-mediated disease genomic information using immune cell eQTL data"},"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","en":"Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21tm0424221"]},{"title":{"ja":"病気につながる血管周囲の微小炎症を標的とする量子技術、ニューロモデュレーション医療による未病時治療法の開発","en":"Quantum and neuron modulation technologies to suppress tissue-specific disease-related microinflammation"},"agency":{"ja":"日本医療研究開発機構（AMED） 健康・医療分野におけるムーンショット型研究開発等事業","en":"Moonshot Research and Development Program, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21zf0127004"]},{"title":{"ja":"自己免疫性疾患の臓器病変局所におけるシングルセルRNAシークエンスを用いたマルチオミックス解析による病態解明基盤の構築","en":"Integrative multi-omics analysis of autoimmune diseases based on single cell RNA-sequencing of inflammatory organs"},"agency":{"ja":"日本医療研究開発機構（AMED）免疫アレルギー疾患実用化研究事業","en":"Practical Research Project for Allergic Diseases and Immunology, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ek0410074"]},{"title":{"ja":"自己免疫疾患における細胞傷害応答と適応免疫応答双方の免疫記憶に関連するT細胞サブセットの解明","en":"Study of T cell subsets associated with immune memory for both cytotoxic and adaptive immune responses in autoimmune diseases"},"agency":{"ja":"国立研究開発法人日本医療研究開発機構（AMED） 革新的先端研究開発支援事業","en":"Advanced Research and Development Programs for Medical Innovation , Japan Agency for Medical Research and Development (AMED-CREST)"},"grantIds":["JP23gm1810005"]},{"title":{"ja":"マルチオームシングルセル解析を用いた自己免疫疾患における加齢関連T細胞の機能解析","en":"Single-cell multiome profiling and functional analysis of human age-associated T cells in autoimmune diseases"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["22H03110"]},{"title":{"ja":null,"en":null},"agency":{"ja":"中外製薬株式会社との共同研究費","en":"Collaborative research fund with Chugai Pharmaceutical Co., Ltd."},"grantIds":null}],"relatedPublications":[{"title":"Integrated bulk and single-cell RNA-sequencing identified disease-relevant monocytes and a gene network module underlying systemic sclerosis","doi":"https://doi.org/10.1016/j.jaut.2020.102547","datasets":["JGAD000309","E-GEAD-344"]},{"title":"Identifying the most influential gene expression profile in distinguishing ANCA-associated vasculitis from healthy controls","doi":"https://doi.org/10.1016/j.jaut.2021.102617","datasets":["JGAD000310"]},{"title":"Dynamic landscape of immune cell-specific gene regulation in immune-mediated 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