{"id":"hum0552","version":1,"url":"https://humandbs.dbcls.jp/research/hum0552/v1","datePublished":"2025-12-23","versions":[{"version":1,"datePublished":"2025-12-23"}],"title":{"ja":"クローン性造血と腹部大動脈瘤との関連を解明する研究","en":"Study to elucidate the association between clonal hematopoiesis and abdominal aortic aneurysm"},"summary":{"aims":{"ja":"腹部大動脈瘤は腹部大動脈が部分的に拡張する疾患で、突然破裂することもあり、日本において「大動脈瘤及び解離」は死因の10位前後である。一方で近年、クローン性造血が動脈硬化や血栓形成を引き起こすことで、心血管疾患に関わっていると報告されている。クローン性造血とは、末梢血球数が正常な健常人において、血液腫瘍の原因遺伝子に体細胞変異を伴った造血幹細胞がクローン性に骨髄で増殖する現象である。クローン性造血の原因遺伝子にはDNMT3A、TET2、ASXL1、PPM1D、JAK2、SF3B1、SRSF2、TP53などがあり、これらの遺伝子異常は、動脈硬化性疾患や心不全の患者の血液細胞にて多く検出されるが、腹部大動脈瘤においては不明である。本研究の目的は腹部大動脈瘤患者を対象としたデータベースを作成し、腹部大動脈瘤患者におけるクローン性造血が、疾患重症度や治療反応性に与える影響を明らかにすることである。","en":"Abdominal aortic aneurysm(AAA) is a localized dilation of the abdominal aorta that may rupture and cause sudden death. In Japan, \"aortic aneurysm and dissection\" ranks around the 10th leading cause of mortality. Recent studies have shown that clonal hematopoiesis (CH), an age-related expansion of hematopoietic stem cells carrying somatic mutations in genes such as DNMT3A, TET2, ASXL1, PPM1D, JAK2, SF3B1, SRSF2, and TP53, can promote atherosclerosis and thrombosis, contributing to cardiovascular disease. While such mutations are common in patients with atherosclerotic disease and heart failure, their role in AAA remains unclear. This study aims to establish an AAA patient database and clarify how CH affects disease severity and treatment response."},"methods":{"ja":"Target Capture Sequencing解析","en":"target capture sequencing"},"targets":{"ja":"名古屋大学医学部附属病院にて腹部大動脈瘤に対する初回外科手術を実施した44症例。腹部大動脈瘤（紡錘状、嚢状いずれも含む）はCT検査にて腹部大動脈径3cm以上で診断した。","en":"Forty-four patients underwent their first surgical repair for abdominal aortic aneurysm at Nagoya University Hospital. AAA (including both fusiform and saccular types) is defined as an abdominal aortic diameter of ≥3 cm on CT imaging."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"腹部大動脈瘤：44症例\n（日本人）","en":"abdominal aortic aneurysm: 44 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）","en":"NGS\n(Target Capture)"}},"releaseNote":{"ja":"腹部大動脈瘤44症例の末梢血から抽出した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 peripheral blood cells of 44 patients with abdominal aortic aneurysm were used for the target capture sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"由良 義充","en":"Yoshimitsu Yura"},"organization":{"name":{"ja":"名古屋大学医学部 循環器内科","en":"Department of Cardiology, Nagoya University School of Medicine"}}}],"researchProjects":[{"name":{"ja":"クローン性造血と心血管疾患研究グループ","en":"Clonal Hematopoiesis & Cardiovascular Disease Project"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"クローン性造血が心血管病を修飾する機構の解明","en":"Mechanistic elucidation of how clonal hematopoiesis modifies cardiovascular disease"},"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":["24K19026"]},{"title":{"ja":"クローン性造血を介した加齢性心血管病の病態解明","en":"Elucidation of the pathophysiology of age-associated cardiovascular disease mediated by clonal hematopoiesis"},"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":["JPMJFR2217"]}],"relatedPublications":[{"title":"Tet2-Clonal Hematopoiesis Drives Aortic Aneurysm via Macrophage-to-Osteoclast-like Differentiation","doi":"https://doi.org/10.1172/jci198708","datasets":["JGAD001007"]}],"datasets":["JGAD001007"],"controlledAccessUsers":[]}