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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

hum0474-v1Release info

Latest

Research title

Analysis of genes associated with autistic spectrum disorder, schizophrenia, and bipolar disorder

Research overview

Aims
Autism Spectrum Disorders (ASDs) are psychiatric disorders with a high prevalence and a significant genetic component. The aetiology is still unknown and there are still no fundamental treatments. The aim of this study was to investigate the presence or absence of variants (mutations or polymorphisms) in genes associated with the onset and transition of the condition in children with autistic spectrum disorder and their families, to examine the relationship between genetic variants and the clinical phenotype (clinical condition), and to use this information for diagnosis, treatment and support.
Methods
Based on the SFARI gene database, 16 highly confident ASD-associated genes, one promoter region, and 20 intergenic regions containing ASD-associated SNPs were selected for the biotinylated oligonucleotide probe design. For sequencing, buccal mucosa was collected using a swab. Genomic DNA extracted from the buccal mucosa samples were used for Target Capture Sequencing analysis.
Participants/materials
32 children with ASD, 8 children with low birth weight, 3 children with sub-threshold ASD, 36 typically developing children
URL

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000864NGS (Target Capture)
  • Targeted DNA sequencing
Controlled-access (Type I)2024-08-23

Data provider

Principal investigator
Shigeru Yokoyama
Affiliation
Research Center for Child Mental Development, Kanazawa University

Research projects

Grants

NameTitleProject number
KAKENHI Grant-in-Aid for Scientific Research (B)
A study of symptom variability corresponding to functional features of brain activity in children with autism spectrum disorder
  • 20H03599
KAKENHI Grant-in-Aid for Scientific Research (B)
study of biological investigation of autism spectrum disorder including sub-threshold
  • 23K27526
KAKENHI Grant-in-Aid for JSPS Fellows
Establishment of diagnostic indices of sub-threshold autism spectrum disorder by brain function imaging and genomic analyses
  • 22KJ2176

Related publications

TitleDOIDataset ID
Association of Genetic Variants with Autism Spectrum Disorder in Japanese Children Revealed by Targeted Sequencing
https://doi.org/10.3389/fgene.2024.1352480 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.