{"id":"hum0021","version":3,"url":"https://humandbs.dbcls.jp/research/hum0021/v3","datePublished":"2021-04-20","versions":[{"version":1,"datePublished":"2015-01-26"},{"version":2,"datePublished":"2021-03-05"},{"version":3,"datePublished":"2021-04-20"}],"title":{"ja":"精神神経疾患の原因解明および診断法・治療法の開発に関する研究","en":"Genetic Analysis in Psychiatric Disorders"},"summary":{"aims":{"ja":"双極性障害関連遺伝子の同定","en":"Identify genes relevant to bipolar disorder"},"methods":{"ja":"Illumina HiSeq 2000/2500を使用したExome解析","en":"Whole exome sequence analysis using Illumina HiSeq 2000/2500"},"targets":{"ja":"健常一卵性双生児3組6例、双極性障害発症者およびその両親（トリオ）","en":"Three pairs of healthy monozygotic twins, 66 trios with bipolar disorder proband and unaffected parents"},"url":{"ja":[{"url":"https://www.juntendo-molecular-psychiatry.com/","text":"https://www.juntendo-molecular-psychiatry.com/"}],"en":[{"url":"https://www.juntendo-molecular-psychiatry.com/en/","text":"https://www.juntendo-molecular-psychiatry.com/en/"}]}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"健常一卵性双生児：3組6名\n双極性障害発症者およびその両親（トリオ）：66＋78家系（198＋234名）\n（日本人）","en":"Healthy Monozygotic Twins: 3 Pairs (6 Participants)\n66 + 78 trios with bipolar disorder proband and unaffected parents\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"双極性障害発症者およびその両親（トリオ）78家系（234名）の唾液から抽出したDNAを用いたExome解析の結果をFastqファイルにて提供する。SureSelect Human All Exon V5 KitまたはSureSelect Human All Exon V6r2+lncRNA+mtDNAを用いてExon領域にしぼり、Illumina HiSeq2000/2500にて平均長101塩基のDNA断片を解読した（Paired-end）。","en":"gDNAs extracted from saliva or peripheral blood cells of 78 trios with bipolar disorder proband and unaffected parents were used for Exome sequencing analysis (fastq format files). Exons were captured using the SureSelect Human All Exon V5 or V6r2+lncRNA+mtDNA Kit and multiplex sequence was performed with the Illumina HiSeq 2000/2500 sequencer (101 bp, Paired-end)."},"dataProviders":[{"name":{"ja":"加藤 忠史","en":"Tadafumi Kato"},"organization":{"name":{"ja":"理化学研究所 脳科学総合研究センター","en":"RIKEN Brain Science Institute"}}}],"researchProjects":[{"name":{"ja":"精神疾患動態研究チーム","en":"Laboratory of Molecular Dynamics of Mental Disorders"},"url":{"ja":[{"url":"https://www.juntendo-molecular-psychiatry.com/","text":"https://www.juntendo-molecular-psychiatry.com/"}],"en":[{"url":"https://www.juntendo-molecular-psychiatry.com/en/","text":"https://www.juntendo-molecular-psychiatry.com/en/"}]}}],"grants":[{"title":{"ja":"高速シーケンスによる一卵性双生児双極性障害不一致例における遺伝子変異の探索","en":"Search for genetic mutations by next generation sequencing of monozygotic twins discordant for bipolar disorder."},"agency":{"ja":"科学研究費助成事業 挑戦的萌芽研究","en":"KAKENHI Grant-in-Aid for Challenging Exploratory Research"},"grantIds":["21659277"]},{"title":{"ja":"精神疾患のゲノム医療実現に向けた統合的研究","en":"Integrated research for the realization of genome medicine of mental disorders"},"agency":{"ja":"日本医療研究開発機構（AMED） ゲノム医療実現推進プラットフォーム事業","en":"Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP18km0405208"]},{"title":{"ja":"トリオサンプルのシーケンス解析による、遺伝子型によって定義される双極性障害の一群の同定","en":"Identification of genetically defined subsets of bipolar disorder by trio sequencing."},"agency":{"ja":"日本医療研究開発機構（AMED） 脳科学研究戦略推進プログラム","en":"Strategic Research Program for Brain Sciences, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20dm0107133"]}],"relatedPublications":[{"title":"Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations.","doi":"https://doi.org/10.1038/mp.2016.69","datasets":["JGAD000379"]},{"title":"Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder","doi":"https://doi.org/10.1038/s41467-021-23453-w","datasets":["JGAD000379"]}],"datasets":["JGAD000014","JGAD000379"],"controlledAccessUsers":[{"principalInvestigator":{"en":"Hailiang Huang"},"affiliation":{"en":"Stanley Center, the Broad Institute"},"country":{"ja":"アメリカ合衆国 (マサチューセッツ州)","en":"Massachusetts, United States"},"researchTitle":{"en":"Asian Bipolar Genetics Network (A-BIG-NET)"},"periodStart":"2021-08-12","periodEnd":"2024-08-29","datasets":["JGAD000014","JGAD000379"]},{"principalInvestigator":{"ja":"中杤 昌弘","en":"Masahiro Nakatochi"},"affiliation":{"ja":"大学院医学系研究科　実社会情報健康医療学, 名古屋大学","en":"Public Health Informatics Unit  Department of Integrated Health Sciences, Nagoya University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"遺伝子解析による脳とこころの病気に対するかかりやすさ（発症脆弱性）や薬の効きめや副作用（治療反応性）等の解明に関する研究","en":"Research on elucidation of susceptibility to brain and mental diseases (vulnerability to disease onset) and efficacy and side effects of drugs (treatment responsiveness) through genetic analysis"},"periodStart":"2023-03-08","periodEnd":"2025-10-27","datasets":["JGAD000379"]}]}