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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
https://doi.org/10.24517/00057996
https://doi.org/10.24517/0005799639777522-c211-46e1-a080-cb7b694fe19a
名前 / ファイル | ライセンス | アクション |
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ME-PR-FUJINO-N-kaken 2020-6p.pdf (458.2 kB)
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Item type | 報告書 / Research Paper(1) | |||||
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公開日 | 2021-04-26 | |||||
タイトル | ||||||
タイトル | 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 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Research in molecular and genetic epidemiology of hypertrophic cardiomyopathy and other cardiomyopathies | |||||
言語 | ||||||
言語 | jpn | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_18ws | |||||
資源タイプ | research report | |||||
ID登録 | ||||||
ID登録 | 10.24517/00057996 | |||||
ID登録タイプ | JaLC | |||||
著者 |
藤野, 陽
× 藤野, 陽 |
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著者別表示 |
Fujino, Noboru
× Fujino, Noboru |
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提供者所属 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 金沢大学医薬保健研究域保健学系 | |||||
書誌情報 |
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 en : 2019 Fiscal Year Final Research Report 巻 2017-04-01 - 2020-03-31, p. 6p., 発行日 2020-05-18 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 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。 | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 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. | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 研究課題/領域番号:17K09082, 研究期間(年度):2017-04-01 - 2020-03-31 | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 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 (KAKEN:科学研究費助成事業データベース(国立情報学研究所)) (https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-17K09082/17K09082seika/)を加工して作成 |
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著者版フラグ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
関連URI | ||||||
識別子タイプ | URI | |||||
関連識別子 | https://kaken.nii.ac.jp/search/?qm=40361993 | |||||
関連名称 | https://kaken.nii.ac.jp/search/?qm=40361993 | |||||
関連URI | ||||||
識別子タイプ | URI | |||||
関連識別子 | https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-17K09082/ | |||||
関連名称 | https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-17K09082/ | |||||
関連URI | ||||||
識別子タイプ | URI | |||||
関連識別子 | https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-17K09082/17K09082seika/ | |||||
関連名称 | https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-17K09082/17K09082seika/ |