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アイテム
Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
http://hdl.handle.net/10422/00012404
http://hdl.handle.net/10422/000124048fb2b05a-5f3a-4113-92b8-c4975c636e67
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
Wada_et_al-2017-Molecular_Genetics_%26_Genomic_Medicine (1.7 MB)
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||||
|---|---|---|---|---|---|---|---|---|
| 公開日 | 2018-04-12 | |||||||
| タイトル | ||||||||
| タイトル | Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy. | |||||||
| 言語 | en | |||||||
| 言語 | ||||||||
| 言語 | eng | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | Arrhythmogenic right ventricular dysplasia/cardiomyopathy | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | genetics; phenotype | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | prognosis | |||||||
| キーワード | ||||||||
| 言語 | en | |||||||
| 主題Scheme | Other | |||||||
| 主題 | racial difference | |||||||
| 資源タイプ | ||||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||||
| 資源タイプ | doctoral thesis | |||||||
| アクセス権 | ||||||||
| アクセス権 | open access | |||||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||||
| 著者 |
WADA, Yuko
× WADA, Yuko
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| 抄録 | ||||||||
| 内容記述タイプ | Abstract | |||||||
| 内容記述 | Background: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy mainly caused by desmosomal gene mutation. More than half of Caucasian probands have desmosomal mutations, which lead to earlier onset of ventricular arrhythmias. Among non-Caucasians, the genetic background of ARVD/C probands and its prognostic impact remain unclear. |
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| 言語 | en | |||||||
| 抄録 | ||||||||
| 内容記述タイプ | Abstract | |||||||
| 内容記述 | Methods and results: We genotyped 99 unrelated Japanese ARVD/C probands for plakophilin 2 (PKP2), desmoglein 2 (DSG2), desmoplakin (DSP), and desmocollin 2 (DSC2) between 2005 and 2014. Seventy-five probands who fulfilled "definite" category according to the 2010 Task Force Criteria (TFC) were enrolled and followed up for 6.4 years. Sixty-four percent of probands had desmosomal mutations; DSG2 was predominant (48% of mutations) followed by PKP2 (38%). DSG2 mutations were almost missense, whereas over 90% of PKP2 mutations were truncating mutations. Lethal ventricular arrhythmias (VAs, sustained ventricular tachycardia/fibrillation) occurred in 57% of probands as the first manifestation and 71% at the end of follow-up. Five died during follow-up. Truncating mutation carriers exhibited earlier lethal VAs onset compared to missense mutation carriers or mutation negatives (age at onset 35 ± 12, 49 ± 16, and 50 ± 19 years, respectively, P < 0.05 in each). Cox proportional hazard analysis revealed for the first time that, compared to mutation negatives, truncating mutation carriers had higher risk for lethal VAs, and especially for onset by their 40s, in an age-dependent manner (RR = 4.6, P < 0.01 by their 40s; RR = 2.9, P = 0.01 by their 50s). |
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| 言語 | en | |||||||
| 抄録 | ||||||||
| 内容記述タイプ | Abstract | |||||||
| 内容記述 | Conclusion: The genetic background of Japanese ARVD/C probands is distinct from that of Caucasian probands, leading to distinct prognosis. The most affected gene mutations in Japanese probands were missense mutations in DSG2 leading to modest outcome, whereas PKP2 truncating mutations were the second most and might be a strong marker for lethal VAs in non-Caucasian Japanese ARVD/C probands. |
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| 言語 | en | |||||||
| 学位名 | ||||||||
| 言語 | ja | |||||||
| 学位名 | 博士（医学） | |||||||
| 学位授与機関 | ||||||||
| 学位授与機関識別子Scheme | kakenhi | |||||||
| 学位授与機関識別子 | 14202 | |||||||
| 言語 | ja | |||||||
| 学位授与機関名 | 滋賀医科大学 | |||||||
| 学位授与年度 | ||||||||
| 内容記述タイプ | Other | |||||||
| 内容記述 | 平成29年度 | |||||||
| 言語 | ja | |||||||
| 学位授与年月日 | ||||||||
| 学位授与年月日 | 2017-09-13 | |||||||
| 学位授与番号 | ||||||||
| 学位授与番号 | 甲第783号 | |||||||
| 書誌情報 |
en : Molecular genetics & genomic medicine 巻 5, 号 6, p. 639-651, 発行日 2017-11 |
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| 出版者 | ||||||||
| 出版者 | Wiley Periodicals, Inc. | |||||||
| 言語 | en | |||||||
| 権利 | ||||||||
| 権利情報 | © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. | |||||||
| 著者版フラグ | ||||||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||
| ISSN | ||||||||
| 収録物識別子タイプ | EISSN | |||||||
| 収録物識別子 | 2324-9269 | |||||||
| PMID | ||||||||
| 識別子タイプ | PMID | |||||||
| 関連識別子 | 29178656 | |||||||
| DOI | ||||||||
| 識別子タイプ | DOI | |||||||
| 関連識別子 | https://doi.org/10.1002/mgg3.311 | |||||||
| 関連名称 | 10.1002/mgg3.311 | |||||||
| 資源タイプ | ||||||||
| 内容記述タイプ | Other | |||||||
| 内容記述 | Thesis or Dissertation | |||||||
