{"id":"hum0082","version":1,"url":"https://humandbs.dbcls.jp/research/hum0082/v1","datePublished":"2017-09-26","versions":[{"version":1,"datePublished":"2017-09-26"},{"version":2,"datePublished":"2017-10-03"}],"title":{"ja":"日本人健常者におけるゲノム全域のSNP解析","en":"Genome-wide analysis of SNPs in Healthy Japanese"},"summary":{"aims":{"ja":"日本人健常者におけるゲノム全域のSNPを解析","en":"Genome-wide SNP genotyping for healthy Japanese"},"methods":{"ja":"（1）Affymetrix Genome-Wide Human SNP Array 6.0を使用して約90万個の変異のGenotypeを決定\n（2）Affymetrix Axiom ASI 1 Arrayを使用して約60万個の変異のGenotypeを決定","en":"(1) Genotyping for about 900,000 SNPs by using of Affymetrix Human SNP Array 6.0\n(2) Genotyping for about 600,000 SNPs by using of Affymetrix Axiom ASI 1 Array"},"targets":{"ja":"日本人健常者419名","en":"419 healthy Japanese"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"日本人健常者 419名の末梢血より抽出したDNAを使用し、下記各手法によりGenotypeを決定した。遺伝子型カウント情報をcsvファイル（非制限公開）にて提供する。\n遺伝子型決定に使用したSNPアレイは以下の通り。\n・Genome-Wide Human SNP Array 6.0（Affymetrix）\n・Axiom Genome-Wide ASI 1 Array（Affymetrix）","en":"Genome-wide SNPs were genotyped using following arrays for 419 healthy Japanese. Genotype count data is provided (csv files).\n(1) Genome-wide 900,000 SNPs using Affymetrix Human SNP Array 6.0\n(2) Genome-wide 600,000 SNPs using Affymetrix Axiom ASI 1 Array"},"dataProviders":[{"name":{"ja":"徳永 勝士","en":"Katsushi Tokunaga"},"organization":{"name":{"ja":"東京大学大学院 医学系研究科","en":"The University of Tokyo, Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"ゲノム科学の総合的推進に向けた大規模ゲノム情報生産・高度情報解析支援","en":"Genome Sciences"},"agency":{"ja":"科学研究費助成事業 新学術領域研究","en":"JSPS KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas"},"grantIds":["221S0002"]},{"title":{"ja":"先端技術を駆使したHLA多型・進化・疾病に関する統合的研究","en":"HLA and diseases"},"agency":{"ja":"科学研究費助成事業 新学術領域研究","en":"KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas"},"grantIds":["22133008"]}],"relatedPublications":[{"title":"A polymorphism in CCR1/CCR3 is associated with narcolepsy","doi":"https://doi.org/10.1016/j.bbi.2015.05.003","datasets":["NHA000057","JGAD000130"]},{"title":"Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia","doi":"https://doi.org/10.7717/peerj.66","datasets":["NHA000057","JGAD000130"]},{"title":"Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population","doi":"https://doi.org/10.1016/j.ajhg.2012.08.010","datasets":["NHA000058","JGAD000131"]},{"title":"IKZF1, a new susceptibility gene for cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement","doi":"https://doi.org/10.1016/j.jaci.2014.12.1916","datasets":["NHA000058","JGAD000131"]}],"datasets":["NHA000057","NHA000058"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"宮川 卓","en":"TAKU MIYAGAWA"},"affiliation":{"ja":"睡眠プロジェクト, 東京都医学総合研究所","en":"Sleep Disorders Project, Department of Psychiatry and Behavioral Sciences, Tokyo Metropolitan Institute of Medical Science"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"過眠を呈する睡眠障害（各種過眠症・概日リズム睡眠障害・睡眠時無呼吸症候群・睡眠関連運動障害・睡眠時随伴症など）の病態に関与する遺伝子の探索とその機能及び末梢血リンパ球の自己抗原特異的増殖反応の研究","en":"Search for genes involved in the pathogenesis of sleep disorders presenting with hypersomnia (various hypersomnias, circadian rhythm sleep disorders, sleep apnea syndrome, sleep-related movement disorders, sleep paralysis, etc.) and study of their functions and autoantigen-specific responses of peripheral blood lymphocytes"},"periodStart":"2023-07-21","periodEnd":"2027-03-31","datasets":["JGAD000131"]}]}