{"created":"2021-03-01T06:40:42.054180+00:00","id":34226,"links":{},"metadata":{"_buckets":{"deposit":"ba3b9a41-9e65-4804-b904-91ad3e6972f9"},"_deposit":{"id":"34226","owners":[],"pid":{"revision_id":0,"type":"depid","value":"34226"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:00034226","sets":["453:456","471:537:538:2028"]},"item_7_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Causative and Susceptibility Genes for Alzheimer's Disease : Our Trials and Latest Updates for Alzheimer's Disease Genetic Research"}]},"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"18","bibliographicPageStart":"13","bibliographicVolumeNumber":"134","bibliographic_titles":[{"bibliographic_title":"新潟医学会雑誌"}]}]},"item_7_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"認知症の半数以上を占めるアルツハイマー病（Alzheimer's Disease : AD）はガン，糖尿病，高血圧などと同じく「ありふれた疾患」である．個々人の遺伝的素因を背景に環境要因（ライフスタイル，食生活，運動など）が加わって潜行性に発症し，緩徐に不可逆的に進行する．遺伝要因，環境要因の寄与率はそれぞれおよそ6割，4割を占めることがこれまでに明らかにされている．マイクロサテライトマーカーを用いた連鎖解析，ジーンチップによるゲノムワイド関連解析(Genome-Wide Association Study : GWAS)，次世代シーケンサーを駆使したターゲットリシーケンシング，全エクソーム解析，全ゲノム解析によって，家族性AD，孤発性ADに関与する遺伝子や病的・保護的バリアントが続々と見出されている．1990年代に若年性の家族性ADの原因遺伝子として報告されたAPP，PSEN1，PSEN2のバリアント解析は，今では臨床診断を確定する際に極めて有効である．同じく1990年代に孤発性ADの感受性遺伝子として初めて報告されたAPOEは，その周辺領域を含めゲノムワイドなレベルで非常に強力にADと関連することが2000年代のGWASで確証された．認知機能，脳画像，液性バイオマーカー（アミロイドベータタンパクやタウタンパク）などの量的形質とも強い関連を示す．そのため孤発性ADの病態を解明し，その治療戦略を考える上で無視できない重要な感受性遺伝子としての地位が確立した．これまでのところ，APOEのインパクトを凌ぐAD感受性遺伝子やバリアントは報告されていない．本稿では講演内容の一部を抜粋し，ADの原因遺伝子，感受性遺伝子にフォーカスして論を進める．この機会にADの遺伝要因に関する理解を深め，今後の更なる研究展開に向けた糧としたい．","subitem_description_type":"Abstract"}]},"item_7_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"48479","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Miyashita, Akinori"}]},{"nameIdentifiers":[{"nameIdentifier":"58436","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Hara, Norikazu"}]},{"nameIdentifiers":[{"nameIdentifier":"72021","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Kasuga, Kensaku"}]},{"nameIdentifiers":[{"nameIdentifier":"61875","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Ikeuchi, Takeshi"}]}]},"item_7_publisher_7":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"新潟医学会"}]},"item_7_select_19":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_7_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00182415","subitem_source_identifier_type":"NCID"}]},"item_7_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"00290440","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"宮下, 哲典"}],"nameIdentifiers":[{"nameIdentifier":"48480","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"原, 範和"}],"nameIdentifiers":[{"nameIdentifier":"58435","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"春日, 健作"}],"nameIdentifiers":[{"nameIdentifier":"62593","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"池内, 健"}],"nameIdentifiers":[{"nameIdentifier":"61874","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-18"}],"displaytype":"detail","filename":"134(1)_13-18.pdf","filesize":[{"value":"4.9 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"134(1)_13-18","url":"https://niigata-u.repo.nii.ac.jp/record/34226/files/134(1)_13-18.pdf"},"version_id":"626e6207-bc66-4599-8ee2-3602c744058d"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"アルツハイマー病","subitem_subject_scheme":"Other"},{"subitem_subject":"ありふれた疾患","subitem_subject_scheme":"Other"},{"subitem_subject":"原因遺伝子","subitem_subject_scheme":"Other"},{"subitem_subject":"感受性遺伝子","subitem_subject_scheme":"Other"},{"subitem_subject":"バリアント","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"アルツハイマー病の原因遺伝子と感受性遺伝子 : 我々の取り組みと国内外の最新事情","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"アルツハイマー病の原因遺伝子と感受性遺伝子 : 我々の取り組みと国内外の最新事情"}]},"item_type_id":"7","owner":"1","path":["456","2028"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-12-18"},"publish_date":"2020-12-18","publish_status":"0","recid":"34226","relation_version_is_last":true,"title":["アルツハイマー病の原因遺伝子と感受性遺伝子 : 我々の取り組みと国内外の最新事情"],"weko_creator_id":"1","weko_shared_id":2},"updated":"2022-12-15T04:04:35.743734+00:00"}