{"created":"2023-07-27T06:55:37.063458+00:00","id":51693,"links":{},"metadata":{"_buckets":{"deposit":"6b4ede15-b7a1-4354-afa9-7d14c22ec7a8"},"_deposit":{"created_by":18,"id":"51693","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"51693"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00051693","sets":["2812:2813:3929"]},"author_link":["74756","273"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2020-05-18","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"6p.","bibliographicVolumeNumber":"2017-04-01 - 2020-03-31","bibliographic_titles":[{"bibliographic_title":"令和1(2019)年度 科学研究費補助金 基盤研究(C) 研究成果報告書"},{"bibliographic_title":"2019 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":[{}],"nameIdentifiers":[{},{}]}]},"item_9_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"本研究では、82名の肥大型心筋症（HCM）症例（男性57.3%、平均年齢55.4歳）を対象として次世代シークエンサーによる遺伝子解析を施行し、44例（54%）で原因遺伝子変異を同定した。全例において心臓MRI所見を解析した結果、ガドリニウム遅延造影（LGE）は60例（73%）に認められ、%LGEの上昇は原因遺伝子変異の存在を予測する独立した因子であった（オッズ比=2.12、p<0.01）。%LGEの変異予測についてのROC解析ではAUC=0.96と高い精度を有し、カットオフ値>8.1%において、感度=93.2%、特異度=89.5%、陽性的中率=91.1%、陰性的中率=91.9%であった。","subitem_description_type":"Abstract"},{"subitem_description":"Cardiac magnetic resonance (CMR) with late gadolinium enhancement (LGE) revealed a variation in the extent of myocardial scarring, a pathological hallmark of hypertrophic cardiomyopathy (HCM). We aimed to investigate whether variations in the extent of LGE in HCM patients can be explained by the presence or absence of disease-causing mutations. We analyzed data from 82 unrelated HCM patients who underwent both LGE-CMR and next-generation sequencing. We identified disease-causing sarcomere gene mutations in 44 cases (54%). The extent of LGE on CMR was an independent factor for predicting mutation-positive HCM (odds ratio 2.12 [95% confidence interval 1.5-3.8], P<0.01). The area under the curve of %LGE was greater than that of the conventional Toronto score for predicting the presence of a mutation (0.96 vs. 0.69, P<0.01). Sensitivity, specificity, positive predictive value, and negative predictive value of %LGE (cutoff >8.1%) were 93.2%, 89.5%, 91.1%, and 91.9%, respectively.","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:17K09082, 研究期間(年度):2017-04-01 - 2020-03-31","subitem_description_type":"Other"},{"subitem_description":"出典：「肥大型心筋症および類縁疾患の発症・進展・予後に関する分子遺伝疫学的研究」研究成果報告書　課題番号17K09082\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/report/KAKENHI-PROJECT-17K09082/17K09082seika/）を加工して作成","subitem_description_type":"Other"}]},"item_9_description_5":{"attribute_name":"提供者所属","attribute_value_mlt":[{"subitem_description":"金沢大学医薬保健研究域保健学系","subitem_description_type":"Other"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.24517/00057996","subitem_identifier_reg_type":"JaLC"}]},"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=40361993"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/search/?qm=40361993","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-17K09082/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-17K09082/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-17K09082/17K09082seika/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-17K09082/17K09082seika/","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_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2021-04-26"}],"displaytype":"detail","filename":"ME-PR-FUJINO-N-kaken 2020-6p.pdf","filesize":[{"value":"458.2 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-FUJINO-N-kaken 2020-6p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/51693/files/ME-PR-FUJINO-N-kaken 2020-6p.pdf"},"version_id":"ac24844e-6523-454f-b2ea-0cd096461757"}]},"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":"肥大型心筋症および類縁疾患の発症・進展・予後に関する分子遺伝疫学的研究","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"肥大型心筋症および類縁疾患の発症・進展・予後に関する分子遺伝疫学的研究"},{"subitem_title":"Research in molecular and genetic epidemiology of hypertrophic cardiomyopathy and other cardiomyopathies","subitem_title_language":"en"}]},"item_type_id":"9","owner":"18","path":["3929"],"pubdate":{"attribute_name":"公開日","attribute_value":"2021-04-26"},"publish_date":"2021-04-26","publish_status":"0","recid":"51693","relation_version_is_last":true,"title":["肥大型心筋症および類縁疾患の発症・進展・予後に関する分子遺伝疫学的研究"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2023-07-27T14:06:31.122251+00:00"}