{"created":"2023-07-27T06:55:19.866729+00:00","id":51129,"links":{},"metadata":{"_buckets":{"deposit":"fab7ac96-4d5a-4ad0-8bdf-23b2643b53d3"},"_deposit":{"created_by":18,"id":"51129","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"51129"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00051129","sets":["2812:2813:4085"]},"author_link":["76698","333"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2022-06-08","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"14p.","bibliographicVolumeNumber":"2019-04-01 - 2022-03-31","bibliographic_titles":[{"bibliographic_title":"令和3(2021)年度 科学研究費補助金 基盤研究(C) 研究成果報告書"},{"bibliographic_title":"2021 Fiscal Year Final Research Report","bibliographic_titleLang":"en"}]}]},"item_9_creator_33":{"attribute_name":"著者別表示","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Kawashiri, Masaaki"}],"nameIdentifiers":[{"nameIdentifier":"76698","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"90345637","nameIdentifierScheme":"e-Rad","nameIdentifierURI":"https://kaken.nii.ac.jp/ja/search/?qm=90345637"}]}]},"item_9_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Familial hypercholesterolemia (FH) is used to be recognized as a simple autosomal dominant monogenic dosorder caused by low-density lipoprotein receptor gene mutation. Recently, it has been recognized the pathophysiology of polygenic FH; an accumulation of common small-effect-sized variants in a single individual.\nWe recruited and genotyped clinically diagnosed FH (CDFH) patients from the Kanazawa University FH registry and controls from the Shikamachi Health Improvement Practice genome cohort. We calculated PRS from 3.6 million variants of each participant for LDL-C (PRSLDLC) using a genome-wide association study summary statistic from the BioBank Japan Project. We tested a total of 1223 participants for the analyses. PRSLDLC was significantly higher in mutation negative CDFH patients than in controls. PRSLDLC was also significantly linked to LDL-C in controls but not in FH patients. However, PRSLDLC may have little additional effect on LDL-C and CAD among FH patients.","subitem_description_type":"Abstract"},{"subitem_description":"近年、効果量の小さい遺伝子変異・多型が一個人に集積した「多遺伝子家族性高コレステロール血症（FH）」の概念が浸透してきた。\n臨床的に診断されたFHと志賀町コーホートを対象にジェノタイピングを行った。バイオバンクジャパンより集められたサマリーを用い、各々の症例につき約360万変異からLDL-C値に関する多遺伝子リスクスコアを計算した。1,223人で検討した結果、臨床診断されたFHはコントロールに比較しリスクスコアは有意に高値であった。コントロール群において、多遺伝子リスクスコアはLDL-C値と有意に相関していた。しかしながら、多遺伝子リスクスコアはどの群においても冠動脈疾患と関連しなかった。","subitem_description_type":"Abstract"}]},"item_9_description_22":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"研究課題/領域番号:19K08553, 研究期間(年度):2019-04-01 - 2022-03-31","subitem_description_type":"Other"},{"subitem_description":"出典：研究課題「網羅的遺伝子解析技術を用いた家族性高コレステロール血症の遺伝子診断」課題番号19K08553\n（KAKEN：科学研究費助成事業データベース（国立情報学研究所）） \n（https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-19K08553/19K08553seika/）を加工して作成","subitem_description_type":"Other"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.24517/00057432","subitem_identifier_reg_type":"JaLC"}]},"item_9_publisher_17":{"attribute_name":"公開者","attribute_value_mlt":[{"subitem_publisher":"金沢大学医薬保健研究域医学系"}]},"item_9_relation_28":{"attribute_name":"関連URI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/search/?qm=90345637"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/search/?qm=90345637","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-19K08553/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-19K08553/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-19K08553/19K08553seika/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-19K08553/19K08553seika/","subitem_relation_type_select":"URI"}}]},"item_9_version_type_25":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"川尻, 剛照"}],"nameIdentifiers":[{"nameIdentifier":"333","nameIdentifierScheme":"WEKO"},{"nameIdentifier":"90345637","nameIdentifierScheme":"e-Rad","nameIdentifierURI":"https://kaken.nii.ac.jp/ja/search/?qm=90345637"},{"nameIdentifier":"90345637","nameIdentifierScheme":"金沢大学研究者情報","nameIdentifierURI":"http://ridb.kanazawa-u.ac.jp/public/detail.php?kaken=90345637"},{"nameIdentifier":"90345637","nameIdentifierScheme":"研究者番号","nameIdentifierURI":"https://nrid.nii.ac.jp/nrid/1000090345637"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2023-02-02"}],"displaytype":"detail","filename":"ME-PR-KAWASHIRI-M-kaken 2022-14p.pdf","filesize":[{"value":"272.3 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-KAWASHIRI-M-kaken 2022-14p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/51129/files/ME-PR-KAWASHIRI-M-kaken 2022-14p.pdf"},"version_id":"f52069cb-4e7b-4203-9454-cb94d949aff9"}]},"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":"research report","resourceuri":"http://purl.org/coar/resource_type/c_18ws"}]},"item_title":"網羅的遺伝子解析技術を用いた家族性高コレステロール血症の遺伝子診断","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"網羅的遺伝子解析技術を用いた家族性高コレステロール血症の遺伝子診断"},{"subitem_title":"Genetic Analysis of Familial Hypercholesterolemia using Whole-exome Sequence","subitem_title_language":"en"}]},"item_type_id":"9","owner":"18","path":["4085"],"pubdate":{"attribute_name":"公開日","attribute_value":"2023-02-02"},"publish_date":"2023-02-02","publish_status":"0","recid":"51129","relation_version_is_last":true,"title":["網羅的遺伝子解析技術を用いた家族性高コレステロール血症の遺伝子診断"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2024-07-01T05:18:19.727320+00:00"}