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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

hum0439-v1Release info

Latest

Research title

Investigation of the relationship between the genes involved in dyslipidemia and the pathogenesis of the disease

Research overview

Aims
Familial hypercholesterolemia (FH) is an inherited disorder caused by mutations in the low-density lipoprotein (LDL) receptor-related gene. FH patients have a significantly increased LDL-C compared to non-genetic hypercholesterolemia, the progression of atherosclerosis is more rapid, and the associated organ damage is more severe. FH heterozygotes are found in more than 1 in 500 people and homozygotes are found in more than 1 in 1 million people, and the total number of FH patients in Japan is estimated to be more than 250,000. Among various inherited metabolic diseases, FH is one of the most frequent and frequently encountered diseases in daily medical practice, but patients heterozygous for FH are not always correctly diagnosed. Therefore, we decided to perform genetic testing in the diagnosis of FH.
Methods
For the LDLR and PCSK9 genes, the genome is cut out using the CRISPR-Cas method, and only that portion is analyzed using a nanopore sequencer.
Participants/materials
Genome sequence information from nanopore sequencing of LDLR and PCSK9 genes in 5 FH patients and 1 control
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
DRA017996NGS (Target Capture)
  • Targeted DNA sequencing
Unrestricted-access2024-03-01

Data provider

Principal investigator
Koh Ono
Affiliation
Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine

Research projects

NameURL
Investigation of the relationship between the genes involved in dyslipidemia and the pathogenesis of the disease
N/A

Grants

NameTitleProject number
KAKENHI Grant-in-Aid for Scientific Research (B)
Elucidation of the functions of long non-coding RNA in cardiovascular diseases
  • JP20H03675

Related publications

TitleDOIDataset ID
CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing.
https://doi.org/10.1371/journal.pone.0297231 (opens in a new tab)