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Due to system maintenance, the application system, application review by the Data Access Committee will be unavailable during the following period.
Schedule: October 5th (Mon), 2026, 9:00 - October 7th (Wed), 2026, 15:00 (JST)
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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0351-v1Release info

Latest

Research title

New classification of occlusive cerebrovascular diseases by combining diagnostic imaging and genetic analysis of RNF213

Research overview

Aims
To unravel the genetic and environmental background of moyamoya disease and to understand the pathophysiology of the disease by utilizing radiological evaluations. We will identify susceptibility genes other than RNF213. We also assess whether genetics affects radiological characteristics including collateral development, tortuosity of the main trunk of the arteries, and the extent of stenosis.
Methods
DNAs were extracted from the fecal samples obtained from participants using NucleoSpin DNA Stool Kit. DNAs was amplified using the 2-step tailed PCR to target the V3-V4 regions of bacterial 16S rRNA. The PCR amplicons were pooled to construct the sequencing library and the quality of the library was confirmed using Fragment Analyzer and dsDNA915 Reagent Kit. Sequencing was performed using the MiSeq Reagent Kit v3.
Participants/materials
Fecal samples were collected from 27 patients with moyamoya disease, 7 patients with non-moyamoya intracranial large artery disease, and 15 control individuals.
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000659Metagenome
  • Metagenomics (16S rRNA)
Controlled-access (Type I)2022-09-01

Data provider

Principal investigator
Yohei Mineharu
Affiliation
Department of Artificial Intelligence in Healthcare and Medicine, Kyoto University

Research projects

No research projects.

Grants

No grants.

Related publications

TitleDOIDataset ID
Increased abundance of Ruminococcus gnavus in gut microbiota is associated with moyamoya disease and non-moyamoya intracranial large artery disease
https://doi.org/10.1038/s41598-022-24496-9 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.