NBDC Research ID: hum0552.v1
SUMMARY
Aims: 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: target capture sequencing
Participants/Materials: 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.
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000864 | NGS (Target Capture) | Controlled-access (Type I) | 2025/12/23 |
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MOLECULAR DATA
| Participants/Materials |
abdominal aortic aneurysm (ICD10: I71.3, I71.4): 44 cases peripheral blood: 44 samples |
| Targets | Target Capture |
| Target Loci for Capture Methods |
ASXL1 (11–13), ATM (1–63), CBL (8–9), CHEK2 (2–15), DNMT3A (1–23), EZH2 (2–20), GNB1 (5–7), JAK2 (12–16), PHF6 (2–10), PPM1D (6), RUNX1 (1–9), SF3B1 (13–18), SMC1A (1–25), SRSF2 (2), TET2 (3–11), TP53 (1–11) numbers reveal exon numbers |
| Platform | Illumina [NovaSeq X] |
| Library Source | DNAs extracted from peripheral blood |
| Cell Lines | - |
| Library Construction (kit name) | VariantPlex, MBC adapter kit for Illumina |
| Fragmentation Methods | Enzymatic fragmentation |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 150 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD001007 |
| Total Data Volume | 100.1 GB (fastq) |
| Comments (Policies) | NBDC policy |
DATA PROVIDER
Principal Investigator: Yoshimitsu Yura
Affiliation: Department of Cardiology, Nagoya University School of Medicine
Project / Group Name: Clonal Hematopoiesis & Cardiovascular Disease Project
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| KAKENHI Grant-in-Aid for Early-Career Scientists | Mechanistic elucidation of how clonal hematopoiesis modifies cardiovascular disease | 24K19026 |
| Fusion Oriented REsearch for disruptive Science and Technology (FOREST) program, Japan Science and Technology Agency (JST) | Elucidation of the pathophysiology of age-associated cardiovascular disease mediated by clonal hematopoiesis | JPMJFR2217 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Tet2-Clonal Hematopoiesis Drives Aortic Aneurysm via Macrophage-to-Osteoclast-like Differentiation | JGAD001007 | |
| 2 |
USERS (Controlled-access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
