{"id":"hum0225","version":1,"url":"https://humandbs.dbcls.jp/research/hum0225/v1","datePublished":"2020-05-08","versions":[{"version":1,"datePublished":"2020-05-08"},{"version":2,"datePublished":"2025-09-24"}],"title":{"ja":"HTLV-1関連脊髄症（HAM）におけるゲノム異常及びエピゲノム異常の解析","en":"Mortality and risk of progression to adult T-cell leukemia/lymphoma in patients with HTLV-1-associated myelopathy/tropical spastic paraparesis"},"summary":{"aims":{"ja":"ヒトT細胞白血病ウイルス（HTLV-1）関連脊髄症（HAM）の遺伝子変異解析を通じて成人T細胞白血病の発症リスクを推定する","en":"Estimating the risks of developing adult T-cell leukemia (ATL) through a genetic analysis of human T-cell leukemia virus (HTLV-1)-associated myelopathy (HAM)"},"methods":{"ja":"次世代シークエンサーを用いたTarget capture sequencing、RNA sequencing、ATAC sequencing、single-cell Multiome（scRNA-seq、scATAC-seq）","en":"Target capture sequencing, RNA-seq, ATAC-seq, single-cell Multiome (scRNA-seq, scATAC-seq)"},"targets":{"ja":"【Target capture sequencing】HAM21症例の感染細胞分画（腫瘍細胞）及び非感染細胞分画（非腫瘍細胞）\n【RNA-seq】HAM13症例の末梢血由来単核球より分離した感染細胞\n【ATAC-seq】HAM2症例の末梢血由来単核球より分離した感染細胞\n【single-cell Multiome】HAM2症例の末梢血由来単核球と腫瘍細胞および無症候性HTLV-1感染3症例の末梢血由来単核球","en":"Target capture: HAM 21 cases (infected and uninfected cells)\nRNA-seq: HAM 13 cases (infected cells)\nATAC-seq: HAM 2 cases (infected cells)\nscMultiome: HAM 2 cases, asymptomatic HTLV-1 carriers 3 individuals"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"HTLV-1関連脊髄症（HAM）21症例の感染細胞分画及び非感染細胞分画から抽出したDNAを用いたTarget Capture Sequencing解析結果をfastqファイルにて提供する。","en":"DNAs extracted from PBMC (infected and uninfected cells) of 21 HAM patients were used for a target capture sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"山岸 誠","en":"Makoto Yamagishi"},"organization":{"name":{"ja":"東京大学大学院新領域創成科学研究科","en":"Graduate School of Frontier Sciences, The University of Tokyo"}}},{"name":{"ja":"山野 嘉久","en":"Yoshihisa Yamano"},"organization":{"name":{"ja":"聖マリアンナ医科大学 難病治療研究センター","en":"Institute of Medical Science, St. Marianna University School of Medicine"}}}],"researchProjects":[{"name":{"ja":"感染症ゲノム腫瘍学分野 / 病因病態解析部門","en":"Laboratory of Viral Oncology and Genomics / Department of Rare Disases Research"},"url":{"ja":[{"url":"https://www.cbms.k.u-tokyo.ac.jp/labs/myamagishi/","text":"https://www.cbms.k.u-tokyo.ac.jp/labs/myamagishi/"}],"en":null}}],"grants":[{"title":{"ja":"HTLV-1関連疾患の発症リスク、進展メカニズムに関するオミックス統合解析と発症予防に資する基盤的研究","en":"Development of risk stratification and prevention for HTLV-1-associated diseases based on multi-omics database"},"agency":{"ja":"日本医療研究開発機構（AMED） 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":["JP20fk0108126"]},{"title":{"ja":"HAMのHTLV-1感染細胞の異常形質を規定するゲノム・エピゲノム制御機構の解析","en":"Analysis of genome/epigenome control mechanism that regulates abnormal traits of HTLV-1 infected cells in HAM"},"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":["19H03575"]},{"title":{"ja":"HAM・HTLV-1陽性難治性疾患の診療ガイドラインに資する統合的レジストリの構築によるエビデンスの創出","en":"The establishment of evidence for clinical guideline development on HAM and HTLV-1-related refractory disease through integration of patient registry"},"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":["JP19ek0109356"]},{"title":{"ja":"ゲノム情報を基盤としたHTLV-1感染症の病態形成機序の解明及び発症リスク予知アルゴリズム開発に関する総合的研究","en":"Comprehensive study on elucidation of pathogenesis of HTLV-1 infection based on genome information and development of risk prediction algorithm"},"agency":{"ja":"日本医療研究開発機構（AMED） 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":["JP25fk0108672"]}],"relatedPublications":[{"title":"Mortality and risk of progression to adult T-cell leukemia/lymphoma in patients with HTLV-1-associated myelopathy/tropical spastic paraparesis","doi":"https://doi.org/10.1073/pnas.1920346117","datasets":["JGAD000318"]}],"datasets":["JGAD000318"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"松岡 雅雄","en":"Masao Matsuoka"},"affiliation":{"ja":"血液・膠原病・感染症内科学講座, 熊本大学大学院生命科学研究部","en":"Faculty of Life Sciences Department of Hematology, Rheumatology and Infectious Diseases, Kumamoto University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"悪性リンパ腫、成人T細胞白血病・リンパ腫の遺伝・病理学的検討を用いた特性および経過・治療に関する後方視的観察研究","en":"Retrospective observational study of characteristics, clinical course and treatment of malignant lymphoma and adult T-cell leukemia/lymphoma with genetic and pathological evaluations"},"periodStart":"2022-05-18","periodEnd":"2030-03-31","datasets":["JGAD000318"]},{"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":["JGAD000318","JGAD000977"]}]}