論文

2022年6月

Genetic analysis of right heart structure and function in 40,000 people

Nature Genetics
  • James P. Pirruccello
  • Paolo Di Achille
  • Victor Nauffal
  • Mahan Nekoui
  • Samuel F. Friedman
  • Marcus D.R. Klarqvist
  • Mark D. Chaffin
  • Lu Chen Weng
  • Jonathan W. Cunningham
  • Shaan Khurshid
  • Carolina Roselli
  • Honghuang Lin
  • Satoshi Koyama
  • Kaoru Ito
  • Yoichiro Kamatani
  • Issei Komuro
  • Koichi Matsuda
  • Yuji Yamanashi
  • Yoichi Furukawa
  • Takayuki Morisaki
  • Yoshinori Murakami
  • Yoichiro Kamatani
  • Kaori Mutu
  • Akiko Nagai
  • Wataru Obara
  • Ken Yamaji
  • Kazuhisa Takahashi
  • Satoshi Asai
  • Yasuo Takahashi
  • Takao Suzuki
  • Nobuaki Sinozaki
  • Hiroki Yamaguchi
  • Shiro Minami
  • Shigeo Murayama
  • Kozo Yoshimori
  • Satoshi Nagayama
  • Daisuke Obata
  • Masahiko Higashiyama
  • Akihide Masumoto
  • Yukihiro Koretsune
  • Sean J. Jurgens
  • Emelia J. Benjamin
  • Puneet Batra
  • Pradeep Natarajan
  • Kenney Ng
  • Udo Hoffmann
  • Steven A. Lubitz
  • Jennifer E. Ho
  • Mark E. Lindsay
  • Anthony A. Philippakis
  • Patrick T. Ellinor
  • 全て表示

54
6
開始ページ
792
終了ページ
803
記述言語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s41588-022-01090-3

Congenital heart diseases often involve maldevelopment of the evolutionarily recent right heart chamber. To gain insight into right heart structure and function, we fine-tuned deep learning models to recognize the right atrium, right ventricle and pulmonary artery, measuring right heart structures in 40,000 individuals from the UK Biobank with magnetic resonance imaging. Genome-wide association studies identified 130 distinct loci associated with at least one right heart measurement, of which 72 were not associated with left heart structures. Loci were found near genes previously linked with congenital heart disease, including NKX2-5, TBX5/TBX3, WNT9B and GATA4. A genome-wide polygenic predictor of right ventricular ejection fraction was associated with incident dilated cardiomyopathy (hazard ratio, 1.33 per standard deviation; P = 7.1 × 10−13) and remained significant after accounting for a left ventricular polygenic score. Harnessing deep learning to perform large-scale cardiac phenotyping, our results yield insights into the genetic determinants of right heart structure and function.

リンク情報
DOI
https://doi.org/10.1038/s41588-022-01090-3
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/35697867
Scopus
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85132050234&origin=inward
Scopus Citedby
https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=85132050234&origin=inward
ID情報
  • DOI : 10.1038/s41588-022-01090-3
  • ISSN : 1061-4036
  • eISSN : 1546-1718
  • PubMed ID : 35697867
  • SCOPUS ID : 85132050234

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