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Genetic analysis of right heart structure and function in 40,000 people.
Pirruccello, James P; Di Achille, Paolo; Nauffal, Victor; Nekoui, Mahan; Friedman, Samuel F; Klarqvist, Marcus D R; Chaffin, Mark D; Weng, Lu-Chen; Cunningham, Jonathan W; Khurshid, Shaan; Roselli, Carolina; Lin, Honghuang; Koyama, Satoshi; Ito, Kaoru; Kamatani, Yoichiro; Komuro, Issei; Jurgens, Sean J; Benjamin, Emelia J; Batra, Puneet; Natarajan, Pradeep; Ng, Kenney; Hoffmann, Udo; Lubitz, Steven A; Ho, Jennifer E; Lindsay, Mark E; Philippakis, Anthony A; Ellinor, Patrick T.
Afiliação
  • Pirruccello JP; Cardiology Division, Massachusetts General Hospital, Boston, MA, USA.
  • Di Achille P; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
  • Nauffal V; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Nekoui M; Harvard Medical School, Boston, MA, USA.
  • Friedman SF; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Klarqvist MDR; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Chaffin MD; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Weng LC; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA, USA.
  • Cunningham JW; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Khurshid S; Harvard Medical School, Boston, MA, USA.
  • Roselli C; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Lin H; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Koyama S; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Ito K; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Kamatani Y; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Komuro I; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Jurgens SJ; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA, USA.
  • Benjamin EJ; Cardiology Division, Massachusetts General Hospital, Boston, MA, USA.
  • Batra P; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
  • Natarajan P; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Ng K; Harvard Medical School, Boston, MA, USA.
  • Hoffmann U; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Lubitz SA; University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Ho JE; Framingham Heart Study, Boston University and National Heart, Lung, and Blood Institute, Framingham, MA, USA.
  • Lindsay ME; Division of Clinical Informatics, Department of Medicine, University of Massachusetts Chan Medical School, Worcester, MA, USA.
  • Philippakis AA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
  • Ellinor PT; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nat Genet ; 54(6): 792-803, 2022 06.
Article em En | MEDLINE | ID: mdl-35697867
ABSTRACT
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cardiomiopatia Dilatada / Cardiopatias Congênitas Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cardiomiopatia Dilatada / Cardiopatias Congênitas Idioma: En Ano de publicação: 2022 Tipo de documento: Article