{"id":"hum0434","version":1,"url":"https://humandbs.dbcls.jp/research/hum0434/v1","datePublished":"2025-04-17","versions":[{"version":1,"datePublished":"2025-04-17"}],"title":{"ja":"T/NK細胞が関連する各種疾患における遺伝子解析","en":"Genetic analyses in patients with T or NK cells-associated disorders"},"summary":{"aims":{"ja":"T細胞あるいはNK細胞が関与する各種疾患の体細胞遺伝子変異を明らかにして臨床情報と統合解析し、発症や難治化に影響を及ぼす遺伝子群を同定することで、新たな診断基準や新規治療薬開発のための基礎データを得る。","en":"The aim of this study is to identify somatic gene mutations associated with various diseases involving T cells or NK cells, and to perform integrated analyses with clinical data in order to elucidate gene sets that contribute to disease onset or treatment resistance. These findings are expected to provide fundamental data for the development of novel diagnostic criteria and therapeutic agents."},"methods":{"ja":"全エクソン解析、ターゲットシーケンス解析","en":"whole exome sequencing and target capture sequencing"},"targets":{"ja":"- 全エクソン解析：赤芽球癆10症例の末梢血から分取したCD4陽性細胞およびCD8陽性細胞\n- ターゲットシーケンス：赤芽球癆53症例、再生不良性貧血10症例、健常コントロール2名、大顆粒リンパ球性白血病55症例の末梢血単核球を用いた。赤芽球癆4症例は複数時点で検体を採取した（症例1：初発時と9年後、症例2：初発時と5年後、症例3：初発時と6年後、症例4：初発時と3年後）","en":"- whole exome sequencing: CD4-positive cells and CD8-positive cells were isolated from 10 patients with pure red cell aplasia were used.\n- targeted capture sequencing: Peripheral blood mononuclear cells (PBMCs) from 53 patients with pure red cell aplasia, 10 patients with aplastic anemia, 2 healthy controls, and 55 patients with large granular lymphocytic leukemia were used. For 4 patients with pure red cell aplasia, PBMCs were collected at 2 different time points (Case 1: onset and 9y later, Case 2: onset and 5y later, Case 3: onset and 6y later, Case 4: onset and 3y later)."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"赤芽球癆：53症例\n再生不良性貧血：10症例\n健常者：2名\n大顆粒リンパ球性白血病：55症例\n（日本人）","en":"pure red cell aplasia: 53 cases\naplastic anemia: 10 cases\n2 healthy controls\nlarge granular lymphocytic leukemia: 55 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、Target Capture）","en":"NGS\n(Exome, Target Capture)"}},"releaseNote":{"ja":"赤芽球癆10症例の末梢血から単離したCD4陽性細胞およびCD8陽性細胞から抽出したDNAを用いたWhole exome sequencing解析データをbamファイルにて提供する。また、赤芽球癆53症例、再生不良性貧血10症例、健常コントロール2名、大顆粒リンパ球性白血病55症例の末梢血単核球もしくは頬粘膜スワブ、CD14陽性細胞、好中球から抽出したDNAを用いた52遺伝子のTarget Capture Sequencing解析データをfastqファイルにて提供する。","en":"- DNAs extracted from CD4+ or CD8+ cells of patients with pure red cell aplasia were used for WES analysis. Bam files are provided.\n- PBMNCs from 53 patients with pure red cell aplasia, 10 patients with aplastic anemia, 2 healthy controls, and 55 patients with large granular lymphocytic leukemia were used for the target capture sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"石田 文宏","en":"Fumihiro Ishida"},"organization":{"name":{"ja":"信州大学 保健学科病因・病態検査学","en":"Department of Biomedical Laboratory Sciences, Shinshu University School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"骨髄不全症候群のT細胞遺伝子変異像による免疫異常の病態解明と新規治療指標開発","en":"Mutational profiles of T cells in bone marrro failure syndrome as clinical markers"},"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":["20K08709"]},{"title":{"ja":"胸腺腫および関連自己免疫疾患におけるT細胞の網羅的遺伝子解析による免疫異常の解明","en":"Elucidation of immune abnormalities in thymoma and related autoimmune diseases through comprehensive genetic analysis of T cells"},"agency":{"ja":"科学研究費助成事業 若手研究","en":"KAKENHI Grant-in-Aid for Young Scientists"},"grantIds":["21K16302"]}],"relatedPublications":[{"title":"Mutational heterogeneities in STAT3 and clonal hematopoiesis-related genes in acquired pure red cell aplasia","doi":"https://doi.org/10.1007/s00277-025-06356-4","datasets":["JGAD000788","JGAD000842"]}],"datasets":["JGAD000788","JGAD000842"],"controlledAccessUsers":[]}