{"id":"hum0474","version":1,"url":"https://humandbs.dbcls.jp/research/hum0474/v1","datePublished":"2024-08-22","versions":[{"version":1,"datePublished":"2024-08-22"}],"title":{"ja":"自閉スペクトラム症・統合失調症・双極性障害関連遺伝子の解析","en":"Analysis of genes associated with autistic spectrum disorder, schizophrenia, and bipolar disorder"},"summary":{"aims":{"ja":"自閉スペクトラム症（Autism Spectrum Disorder：ASD）は有病率が高く、遺伝の関与の大きい精神障害である。病因はいまだ解明されておらず、根本的な治療法が存在しない。本研究の目的は、自閉スペクトラム症児（者）およびその家族について、まず、発症に関連する遺伝子の変異の有無を検索し、それら遺伝子変異と表現型との関連性について検討し、診断・治療・療育に役立てることである。","en":"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":{"ja":"SFARI遺伝子データベースと過去の報告に基づき、16のASD関連遺伝子、1つのプロモーター領域、20の遺伝子間領域を対象としたTarget Capture Sequencing解析","en":"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."},"targets":{"ja":"ASD児（32名）、低出生体重児（8名）、閾値下ASD児（3名）、定型発達児（36名）","en":"32 children with ASD, 8 children with low birth weight, 3 children with sub-threshold ASD, 36 typically developing children"},"url":{"ja":[{"url":"https://kodomokokoro.w3.kanazawa-u.ac.jp/bambi_plan/","text":"https://kodomokokoro.w3.kanazawa-u.ac.jp/bambi_plan/"}],"en":[{"url":"https://kodomokokoro.w3.kanazawa-u.ac.jp/en/","text":"https://kodomokokoro.w3.kanazawa-u.ac.jp/en/"}]}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"自閉スペクトラム症児：32症例\n低出生体重児：8名\n閾値下自閉スペクトラム症児：3症例\n定型発達児：36名\n（日本人）","en":"32 children with ASD\n8 children with low birth weight\n3 children with sub-threshold ASD\n36 typically developing children\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）","en":"NGS\n(Target Capture)"}},"releaseNote":{"ja":"自閉スペクトラム症児（32名）、低出生体重児（8名）、閾値下自閉スペクトラム症児（3名）、定型発達児（36名）の頬粘膜から抽出したDNAを用いたTarget Capture Sequencing解析データをfastq形式およびvcf形式で提供する。","en":"DNAs extracted from the buccal mucosa of 32 children with ASD, 8 children with low birth weight, 3 children with sub-threshold ASD, 36 typically developing children were used for the Target Capture Sequencing analysis. Fastq and vcf files are provided."},"dataProviders":[{"name":{"ja":"横山 茂","en":"Shigeru Yokoyama"},"organization":{"name":{"ja":"金沢大学 子どものこころの発達研究センター","en":"Research Center for Child Mental Development, Kanazawa University"}}}],"researchProjects":[{"name":{"ja":"「バンビプラン」、「みんなでこそだてプロジェクト」","en":"Bambi Plan"},"url":{"ja":[{"url":"https://kodomokokoro.w3.kanazawa-u.ac.jp/bambi_plan/","text":"https://kodomokokoro.w3.kanazawa-u.ac.jp/bambi_plan/"}],"en":[{"url":"https://kodomokokoro.w3.kanazawa-u.ac.jp/en/","text":"https://kodomokokoro.w3.kanazawa-u.ac.jp/en/"}]}}],"grants":[{"title":{"ja":"自閉スペクトラム症幼児の脳活動の機能別特徴に対応する症状多様性の検討","en":"A study of symptom variability corresponding to functional features of brain activity in children with autism spectrum disorder"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["20H03599"]},{"title":{"ja":"診断閾下を含む自閉スペクトラム症の生物学的検討","en":"study of biological investigation of autism spectrum disorder including sub-threshold"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["23K27526"]},{"title":{"ja":"脳機能画像およびゲノム解析による診断閾下自閉スペクトラム症の診断指標の確立","en":"Establishment of diagnostic indices of sub-threshold autism spectrum disorder by brain function imaging and genomic analyses"},"agency":{"ja":"科学研究費助成事業 特別研究員奨励費","en":"KAKENHI Grant-in-Aid for JSPS Fellows"},"grantIds":["22KJ2176"]}],"relatedPublications":[{"title":"Association of Genetic Variants with Autism Spectrum Disorder in Japanese Children Revealed by Targeted Sequencing","doi":"https://doi.org/10.3389/fgene.2024.1352480","datasets":["JGAD000864"]}],"datasets":["JGAD000864"],"controlledAccessUsers":[]}