{"id":"hum0314","version":1,"url":"https://humandbs.dbcls.jp/research/hum0314/v1","datePublished":"2021-11-19","versions":[{"version":1,"datePublished":"2021-11-19"}],"title":{"ja":"アルツハイマー型認知症患者を対象とした疾患表現型と遺伝型の関連性解析","en":"Analysis of the relationship between disease phenotype and genotype in patients with Alzheimer's disease"},"summary":{"aims":{"ja":"アルツハイマー病（Alzheimer's disease: AD）の病態は未解明で、対症療法としての薬物介入やリハビリ・介護サービスで患者の生活の質を保つといった治療アプローチに限られる。孤発性AD発症には遺伝的背景が大きく関与していることが示されており、ADの病態解明および治療薬開発のためにiPS細胞技術と遺伝的背景の理解が有用である。患者細胞に付随する匿名化された情報およびジェノタイプ情報を比較することで病態を探索する。","en":"The pathophysiology of Alzheimer's disease (AD) remains unclear and is limited to therapeutic approaches such as symptomatic drug intervention and rehabilitation / long-term care services to maintain the patient's quality of life. It has been shown that the genetic background is significantly involved in the development of sporadic AD. Pseudonymized information of the patient's cells and genotypes of them were compared with each other."},"methods":{"ja":"Infinium OmniExpressExome-8 v1.4 BeadChip（イルミナ社）を用いて、既存試料ゲノムDNAからジェノタイプデータを取得した。","en":"Genotyped with Infinium OmniExpressExome-8 v1.4 BeadChip according to manufacturer instructions"},"targets":{"ja":"102名分の孤発性アルツハイマー病患者","en":"102 patients with sporadic Alzheimer's disease"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"孤発性アルツハイマー病：102症例\n（日本人）","en":"102 patients with sporadic Alzheimer's disease\n(Japanese)"},"typeOfData":{"ja":"SNP-chip","en":"SNP-chip"}},"releaseNote":{"ja":"孤発性アルツハイマー病102症例の末梢血より抽出したDNAを用いたSNPアレイ解析データをcsvファイルにて提供する。","en":"DNAs extracted from peripheral blood cells from 102 patients with sporadic Alzheimer's disease were genotyped with Infinium OmniExpressExome-8 v1.4 BeadChip. Csv files are provided."},"dataProviders":[{"name":{"ja":"井上 治久","en":"Haruhisa Inoue"},"organization":{"name":{"ja":"京都大学 iPS細胞研究所","en":"Center for iPS Cell Research and Applicatio (CiRA), Kyoto university"}}}],"researchProjects":[{"name":{"ja":"幹細胞医学","en":"Laboratory of Stem Cell Medicine"},"url":{"ja":[{"url":"https://inoue.cira.kyoto-u.ac.jp","text":"https://inoue.cira.kyoto-u.ac.jp"}],"en":[{"url":"https://inoue.cira.kyoto-u.ac.jp/en/","text":"https://inoue.cira.kyoto-u.ac.jp/en/"}]}}],"grants":[{"title":{"ja":null,"en":null},"agency":{"ja":"京都大学 iPS細胞研究所 運営交付金","en":"Center for iPS Cell Research and Application, Kyoto University Management Expenses Grants"},"grantIds":null},{"title":{"ja":null,"en":null},"agency":{"ja":"理化学研究所 革新知能統合研究センター 運営費交付金","en":"Center for Advanced Intelligence Project (AIP), RIKEN Management Expenses Grants"},"grantIds":null}],"relatedPublications":[{"title":"Dissection of the polygenic architecture of neuronal Aβ production in Alzheimer's disease using induced neurons from patient iPSCs","doi":null,"datasets":null}],"datasets":["JGAD000498"],"controlledAccessUsers":[]}