{"id":"hum0072","version":1,"url":"https://humandbs.dbcls.jp/research/hum0072/v1","datePublished":"2017-12-26","versions":[{"version":1,"datePublished":"2017-12-26"}],"title":{"ja":"ナルコレプシーおよび各種睡眠障害の感受性遺伝子の同定と機能解析","en":"Identification and functional analyses of susceptibility genes to narcolepsy and other sleep disorders"},"summary":{"aims":{"ja":"ナルコレプシーおよび各種睡眠障害の感受性遺伝子の同定と機能解析","en":"Identification and functional analyses of susceptibility genes to narcolepsy and other sleep disorders"},"methods":{"ja":"Affymetrix Genome-Wide Human SNP Array 6.0を使用して約90万個の一塩基多型（Single Nucleotide Polymorphisms：SNPs）の遺伝子型を決定後ゲノムワイド関連解析（Genome-Wide Association Study：GWAS）、および機能解析を実施","en":"SNP-based genome-wide association study and functional analysis"},"targets":{"ja":"情動脱力発作を伴うナルコレプシー患者409症例と対照健常者1562名、およびHLA-DQB1*06:02陰性真性過眠症125症例とHLA-DQB1*06:02陰性対照健常者562名","en":"(1) 409 patients with narcolepsy-cataplexy and 1562 healthy controls\n(2) 125 patients with HLA-DQB1*06:02 negative essential hypersomnia and 562 HLA-DQB1*06:02 negative healthy controls"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"ゲノムワイド関連","en":"Genome-wide association"},"targets":{"ja":"ナルコレプシー：409症例\n対照：1562名\n真性過眠症：125症例\n対照：562名\n（日本人）","en":"409 narcolepsy patients\n1562 controls\n(Japanese)\n125 essential hypersomnia patients\n562 controls\n(Japanese)"},"typeOfData":{"ja":"SNP-chip","en":"SNP-chip"}},"releaseNote":{"ja":"以下の対象について、Affymetrix Genome-Wide Human SNP Array 6.0を使用して遺伝子型決定を行い、ゲノムワイド関連解析を実施した結果を提供する（csv file）。\n1．情動脱力発作を伴うナルコレプシー患者：409症例、対照健常者：1562名\n2．HLA-DQB1*06:02陰性真性過眠症：125症例、HLA-DQB1*06:02陰性対照健常者：562名","en":"(1) A genome-wide association study for 409 patients with narcolepsy-cataplexy and 1562 healthy controls was performed using 525,198 autosomal non-HLA SNPs (Affymetrix Genome-Wide Human SNP Array 6.0).\n(2) A genome-wide association study for 125 patients with HLA-DQB1*06:02 negative essential hypersomnia and 562 HLA-DQB1*06:02 negative healthy controls was performed using 508,366 SNPs (Affymetrix Genome-Wide Human SNP Array 6.0)."},"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":"Graduate School of Medicine, The University of Tokyo"}}}],"researchProjects":[{"name":{"ja":"人類遺伝学教室","en":"Department of Human Genetics"},"url":{"ja":[{"url":"https://www.humgenet.m.u-tokyo.ac.jp/","text":"https://www.humgenet.m.u-tokyo.ac.jp/"}],"en":[{"url":"https://www.humgenet.m.u-tokyo.ac.jp/index.en.html","text":"https://www.humgenet.m.u-tokyo.ac.jp/index.en.html"}]}}],"grants":[{"title":{"ja":"HLA遺伝子群の多様性と疾病解析","en":"Variation and disease associations of HLA genes"},"agency":{"ja":"文部科学省科学研究費補助金 新学術領域研究","en":"KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas"},"grantIds":["22133008"]}],"relatedPublications":[{"title":"Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia","doi":"https://doi.org/10.7717/peerj.66","datasets":["NHA000060"]},{"title":"A polymorphism in CCR1/CCR3 is associated with narcolepsy","doi":"https://doi.org/10.1016/j.bbi.2015.05.003","datasets":["NHA000061"]}],"datasets":["NHA000061","NHA000060"],"controlledAccessUsers":[]}