{"id":"hum0163","version":1,"url":"https://humandbs.dbcls.jp/research/hum0163/v1","datePublished":"2018-12-14","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":{},"releaseNote":{"ja":"精神・神経疾患およびがん罹患者の末梢血から抽出したDNAを使用し、薬物動態関連100遺伝子コーディング領域に存在する1846variantsおよびCYP2D6遺伝子のディプロタイプを対象としたTarget Capture（NGS）を実施した際の、990症例分の1846 variantsの頻度情報およびCYP2D6遺伝子の頻度情報をcsvファイルにて提供する。自作のMultiplexPCRによってライブラリを作製し、Illumina [MiSeq]にて平均長377 bpのDNA断片を解読した（Paired-end）。","en":"DNAs extracted from peripheral blood cells of patients with psychiatric/neurological disorders or cancers were used for the targeted NGS analysis focusing on 100 pharmacogenes and CYP2D6. Allele frequencies of 100 pharmacogenes (1846 variants) and genotype frequencies of CYP2D6 for 990 patients were provided (csv file).\nLibraries were prepared by using of in-house multiplexPCR and read by Illumina [MiSeq] (paired-end: average read length 377 bp)."},"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"],"controlledAccessUsers":[]}