徳島大学 教育・研究者情報データベース(EDB)

Education and Research Database (EDB), Tokushima University

徳島大学ウェブサイトへのリンク

著作: Wang Ce/Hata Yukiko/Hirono Keiichi/Takahashi Asami/[早渕 康信]/A wide and specific spectrum of genetic variants and genotype? Phenotype correlations revealed by next-generation sequencing in patients with left ventricular noncompaction./[Journal of the American Heart Association]

ヘルプを読む

「著作」(著作(著書,論文,レター,国際会議など))は,研究業績にかかる著作(著書,論文,レター,国際会議など)を登録するテーブルです. (この情報が属するテーブルの詳細な定義を見る)

  • 項目名の部分にマウスカーソルを置いて少し待つと,項目の簡単な説明がツールチップ表示されます.

この情報をEDB閲覧画面で開く

EID
336890
EOID
912015
Map
0
LastModified
2018年7月2日(月) 14:18:35
Operator
大家 隆弘
Avail
TRUE
Censor
0
Owner
早渕 康信
Read
継承
Write
継承
Delete
継承
種別 必須 学術論文(審査論文)
言語 必須 英語
招待 推奨
審査 推奨 Peer Review
カテゴリ 推奨 研究
共著種別 推奨
学究種別 推奨
組織 推奨
著者 必須
  1. (英) Wang Ce
    役割 任意
    貢献度 任意
    学籍番号 推奨
  2. (英) Hata Yukiko
    役割 任意
    貢献度 任意
    学籍番号 推奨
  3. (英) Hirono Keiichi
    役割 任意
    貢献度 任意
    学籍番号 推奨
  4. (英) Takahashi Asami
    役割 任意
    貢献度 任意
    学籍番号 推奨
  5. 早渕 康信([徳島大学.病院.中央診療施設等.地域小児科診療部])
    役割 任意
    貢献度 任意
    学籍番号 推奨
題名 必須

(英) A wide and specific spectrum of genetic variants and genotype? Phenotype correlations revealed by next-generation sequencing in patients with left ventricular noncompaction.

副題 任意
要約 任意

(英) Left ventricular noncompaction (LVNC) has since been classified as a primary genetic cardiomyopathy, but the genetic basis is not fully evaluated. The aim of the present study was to identify the genetic spectrum using next-generation sequencing and to evaluate genotype-phenotype correlations in LVNC patients. Using next-generation sequencing, we targeted and sequenced 73 genes related to cardiomyopathy in 102 unrelated LVNC patients. We identified 43 pathogenic variants in 16 genes in 39 patients (38%); 28 were novel variants. Sarcomere gene variants accounted for 63%, and variants in genes associated with channelopathies accounted for 12%. and pathogenic variants were the most common, and rare variant collapsing analysis showed variants in these genes contributed to the risk of LVNC, although patients carrying and pathogenic variants displayed different phenotypes. Patients with pathogenic variants had early age of onset and more severely decreased left ventricular ejection fractions. Survival analysis showed poorer prognosis in patients with pathogenic variants, especially those with multiple variants: All died before their first birthdays. Adverse events were noted in 17 patients, including 13 deaths, 3 heart transplants, and 1 implantable cardioverter-defibrillator insertion. Congestive heart failure at diagnosis and pathogenic variants were independent risk factors for these adverse events. Next-generation sequencing revealed a wide spectrum of genetic variations and a high incidence of pathogenic variants in LVNC patients. These pathogenic variants were independent risk factors for adverse events. Patients harboring pathogenic variants showed poor prognosis and should be followed closely.

キーワード 推奨
  1. (英) Child, Preschool
  2. (英) DNA Mutational Analysis
  3. (英) Defibrillators, Implantable
  4. (英) Disease-Free Survival
  5. (英) Electric Countershock
  6. (英) Female
  7. (英) Gene Frequency
  8. (英) Genetic Association Studies
  9. (英) Genetic Markers
  10. (英) Genetic Predisposition to Disease
  11. (英) Heart Transplantation
  12. (英) High-Throughput Nucleotide Sequencing
  13. (英) Humans
  14. (英) Infant
  15. (英) Isolated Noncompaction of the Ventricular Myocardium
  16. (英) Japan
  17. (英) Kaplan-Meier Estimate
  18. (英) Male
  19. (英) Mutation
  20. (英) Phenotype
  21. (英) Polymorphism, Single Nucleotide
  22. (英) Predictive Value of Tests
  23. (英) Time Factors
  24. (英) Ventricular Function, Left
発行所 推奨
誌名 必須 Journal of the American Heart Association([American Heart Association]/American Stroke Association)
(eISSN: 2047-9980)
ISSN 任意 2047-9980
ISSN: 2047-9980 (eISSN: 2047-9980)
Title: Journal of the American Heart Association
Title(ISO): J Am Heart Assoc
Publisher: American Heart Association
 (NLM Catalog  (Scopus  (CrossRef (Scopus information is found. [need login])
必須 6
必須 9
必須 e006210 e006210
都市 任意
年月日 必須 2017年 8月 30日
URL 任意
DOI 任意 10.1161/JAHA.117.006210    (→Scopusで検索)
PMID 任意 28855170    (→Scopusで検索)
CRID 任意
WOS 任意
Scopus 任意
評価値 任意
被引用数 任意
指導教員 推奨
備考 任意
  1. (英) Article.ELocationID: e006210

  2. (英) Article.ELocationID: 10.1161/JAHA.117.006210

  3. (英) Article.PublicationTypeList.PublicationType: Journal Article

  4. (英) KeywordList.Keyword: genetics

  5. (英) KeywordList.Keyword: noncompaction cardiomyopathy

  6. (英) KeywordList.Keyword: prognosis