{"id":"hum0264","version":2,"url":"https://humandbs.dbcls.jp/research/hum0264/v2","datePublished":"2022-02-28","versions":[{"version":1,"datePublished":"2022-02-07"},{"version":2,"datePublished":"2022-02-28"}],"title":{"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および末梢血リンパ球の自己抗原特異的増殖反応の研究","en":"Elucidation of the pathogenesis and identification of susceptibility genes for sleep disorders by genetic and functional analyses."},"summary":{"aims":{"ja":"ナルコレプシータイプ1は遺伝要因との強い関連が知られており、睡眠発作、情動脱力発作等を主症状とする代表的な中枢性過眠症である。さらに遺伝要因が関わる中枢性過眠症として、特発性過眠症及び真性過眠症（ナルコレプシータイプ2）等が知られている。特発性過眠症は長時間にわたる睡眠エピソードが出現し、日中に強い眠気を感じ、1日の総睡眠時間が11時間以上となる特に重症な過眠症である。真性過眠症は睡眠発作を主症状とするが情動脱力発作は認められない。中枢性過眠症は稀な疾患であり、精神疾患、身体疾患等で説明できない。その病態及び原因が解明されていないため、治療法が確立しておらず、さらに対症療法に用いられる薬剤は副作用が多いことが問題となっている。そこで、中枢性過眠症を対象としたゲノムワイド関連解析やシークエンス解析等により、疾患感受性遺伝子を同定することで、その病態及び原因を解明することを研究目的としている。","en":"Central disorders of hypersomnolence are lifelong disorders characterized by recurrent episodes of excessive daytime sleepiness. Central disorders of hypersomnolence include narcolepsy (type 1 and type 2) and idiopathic hypersomnia. The pathogenesis of central disorders of hypersomnolence is poorly understood. No effective treatment for the disorders has been established. We expect that genetic researches will provide important contributions to understand the genetic basis and pathogenesis of the disorders. To identify susceptibility genes associated with central disorders of hypersomnolence, we will perform genome-wide association analyses, sequencing analyses and so on for the disorders."},"methods":{"ja":"SNPチップにより得られた遺伝子型情報を用いて、ゲノムワイド関連解析を実施した。","en":"We performed a genome-wide association study using genotyping data obtained from SNP chip."},"targets":{"ja":"特発性過眠症（オレキシン変異陽性13例、オレキシン変異陰性116例）","en":"Idiopathic hypersomnia (13 orexin mutation-positive patients, 116 orexin mutation-negative patients)"},"url":{"ja":[{"url":"https://www.igakuken.or.jp/sleep/","text":"https://www.igakuken.or.jp/sleep/"}],"en":[{"url":"https://www.igakuken.or.jp/english/project/detail/sleep1.html","text":"https://www.igakuken.or.jp/english/project/detail/sleep1.html"}]}},"listingSummary":{"methods":{"ja":"ゲノムワイド関連","en":"Genome-wide association study"},"targets":{"ja":"特発性過眠症：129症例\n（日本人）","en":"Idiopathic hypersomnia: 129 cases\n(Japanese)"},"typeOfData":{"ja":"SNP-chip","en":"SNP-chip"}},"releaseNote":{"ja":"特発性過眠症96症例の個人毎のSNPアレイデータをCELファイルにて提供する。","en":"Individual SNP array data for 96 patients with idiopathic hypersomnia are provided as CEL files."},"dataProviders":[{"name":{"ja":"本多 真","en":"Makoto Honda"},"organization":{"name":{"ja":"東京都医学総合研究所 精神行動医学研究分野","en":"Psychiatry and Behavioral Science, Tokyo Metropolitan Institute of Medical Science"}}}],"researchProjects":[{"name":{"ja":"睡眠プロジェクト","en":"Sleep Disorders Project"},"url":{"ja":[{"url":"https://www.igakuken.or.jp/sleep/","text":"https://www.igakuken.or.jp/sleep/"}],"en":[{"url":"https://www.igakuken.or.jp/english/project/detail/sleep1.html","text":"https://www.igakuken.or.jp/english/project/detail/sleep1.html"}]}}],"grants":[{"title":{"ja":"統合的な遺伝解析を用いた中枢性過眠症の感受性遺伝子の同定及び病態の解明","en":"Elucidation of the pathogenesis and identification of susceptibility genes for central disorders of hypersomnolence by an integrated genetic analysis"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare / Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP19ek0109208"]},{"title":{"ja":"ナルコレプシーの感受性遺伝子の探索及び個別化治療への応用","en":"Searching for susceptibility genes for narcolepsy, and their application for precision medicine"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["15H04709"]},{"title":{"ja":"メタボローム・ゲノム解析を中心としたナルコレプシーの病態解明と個別化医療への応用","en":"Elucidation of the pathogenesis of narcolepsy by metabolome/genome analysis and its application to personalized medicine"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["19H03588"]}],"relatedPublications":[{"title":"Genome-wide association study of idiopathic hypersomnia in a Japanese population","doi":"https://doi.org/10.1007/s41105-021-00349-2","datasets":["JGAD000626"]},{"title":"A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia","doi":"https://doi.org/10.1038/s41525-022-00298-w","datasets":["JGAD000626"]}],"datasets":["JGAD000626","NHA000165"],"controlledAccessUsers":[]}