{"id":"hum0163","version":3,"url":"https://humandbs.dbcls.jp/research/hum0163/v3","datePublished":"2023-04-21","versions":[{"version":1,"datePublished":"2018-12-14"},{"version":2,"datePublished":"2021-02-09"},{"version":3,"datePublished":"2023-04-21"}],"title":{"ja":"精神・神経疾患治療薬及びがん治療薬におけるファーマコゲノミクス研究","en":"Pharmacogenomics research for therapeutics in psychiatry, neurology and oncology"},"summary":{"aims":{"ja":"精神・神経疾患及びがん治療における薬効・副作用に関連する遺伝子・代謝産物（バイオマーカー）を同定し、将来の、ゲノム情報に基づいた層別化医療（stratified medicine）の実現の足がかりとする。","en":"Identification of biomarkers associated with efficacy and adverse drug reactions in therapeutics for psychiatric/neurological disorders or cancers, leading to establishment of stratified medicine based on pharmacogenomic information."},"methods":{"ja":"精神・神経疾患及びがん患者を対象に、DNA、血漿及びカルテ情報を収集する。薬物動態に関連する100遺伝子（Pharmacogene）を対象としたターゲット・リシークエンス解析やヒト白血球抗原（Human Leukocyte Antigen: HLA）タイピング等のゲノム解析、メタボローム解析、ファーマコカイネティクス解析により、薬剤応答性関連遺伝子・代謝産物（バイオマーカー）を探索する。","en":"DNA/plasma samples and clinical information are collected from patients with psychiatric/neurological disorders or cancers. Targeted NGS analysis focusing on 100 pharmacogenes, HLA typing, metabolome analysis, and pharmacokinetic analysis were conducted to identify biomarkers associated with drug responses."},"targets":{"ja":"ラモトリギン、クロザピンなどの向精神薬による治療症例、レゴラフェニブ、トラスツズマブ、ニボルマブなどのがん分子標的治療薬による治療症例、抗てんかん薬による治療症例\n水疱性類天疱瘡患者：90症例、対照健常者：日本人由来B細胞株（PSC細胞株）737検体","en":"Patients receiving psychotropic drugs (lamotrigine and clozapine), and patients receiving anti-cancer molecular targeted drugs (regorafenib, trastuzumab and nivolumab)\n90 bullous pemphigoid cases; 737 general populations derived from Epstein-Barr virus-transformed B-lymphoblast cell lines of unrelated Japanese individuals established by the Pharma SNP Consortium (PSC)"},"url":{"ja":[{"url":"https://www.amed.go.jp/koubo/04/01/0401C_00078.html","text":"https://www.amed.go.jp/koubo/04/01/0401C_00078.html"}],"en":null}},"listingSummary":{"methods":{"ja":"配列決定\nゲノムワイド関連","en":"Sequencing, Genome-wide association study"},"targets":{"ja":"精神・神経疾患及び癌：計990症例\n水疱性類天疱瘡：90症例\n対照健常者（日本人由来B細胞株）：737検体\n（日本人）","en":"990 patients with psychiatric/neurological disorders and cancers\n90 bullous pemphigoid cases\n737 healthy controls\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）\nSNP-chip","en":"NGS\n(Target Capture)\nSNP-chip"}},"releaseNote":{"ja":"水疱性類天疱瘡90症例の末梢血およびPSC細胞株737検体から抽出したDNAを用いたSNP-chipによる配列決定後、GWASを実施した統計解析データをxlsxファイルにて提供する。","en":"DNAs extracted from peripheral blood cells of bullous pemphigoid patients and B-lymphoblast cells were genotyped by using of Illumina Infinium OmniExpressExome BeadChip and a genome-wide association study was performed (xlsx file)."},"dataProviders":[{"name":{"ja":"莚田 泰誠","en":"Taisei Mushiroda"},"organization":{"name":{"ja":"理化学研究所 生命医科学研究センター ファーマコゲノミクス研究チーム","en":"RIKEN Center for Integrative Medical Sciences, Laboratory for Pharmacogenomics"}}}],"researchProjects":[],"grants":[{"title":{"ja":"精神・神経疾患治療薬及びがん治療薬におけるファーマコゲノミクス研究","en":"Pharmacogenomics research for therapeutics in psychiatry, neurology and oncology"},"agency":{"ja":"日本医療研究開発機構 ゲノム医療実現推進プラットフォーム事業（先端ゲノム研究開発）","en":"Advanced Genome Research and Bioinformatics Study to Facilitate Medical Innovation (GRIFIN), Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP16km0405201"]},{"title":{"ja":"水疱性類天疱瘡の発症機序の解明と発症リスク因子の同定","en":"Elucidation of the pathogenesis and risk factors of bullous pemphigoid"},"agency":{"ja":"日本医療研究開発機構 難治性疾患実用化研究事業","en":"Practical Research Project for Rare / Intractable Diseases"},"grantIds":["JP22ek0109430"]}],"relatedPublications":[{"title":"GSTP1 rs1695 is associated with both hematological toxicity and prognosis of ovarian cancer treated with paclitaxel plus carboplatin combination chemotherapy: a comprehensive analysis using targeted resequencing of 100 pharmacogenes.","doi":"https://doi.org/10.18632/oncotarget.25712","datasets":["NHA000076"]},{"title":"Association of Genetic Variants of HLA-DQA1 with Bullous Pemphigoid Induced by Dipeptidyl Peptidase-4 Inhibitors","doi":"https://doi.org/10.1016/j.jid.2023.04.017","datasets":["NHA000186"]}],"datasets":["NHA000076","NHA000159","NHA000186"],"controlledAccessUsers":[]}