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Deep learning of left atrial structure and function provides link to atrial fibrillation risk.
Pirruccello, James P; Di Achille, Paolo; Choi, Seung Hoan; Rämö, Joel T; Khurshid, Shaan; Nekoui, Mahan; Jurgens, Sean J; Nauffal, Victor; Kany, Shinwan; Ng, Kenney; Friedman, Samuel F; Batra, Puneet; Lunetta, Kathryn L; Palotie, Aarno; Philippakis, Anthony A; Ho, Jennifer E; Lubitz, Steven A; Ellinor, Patrick T.
Afiliação
  • Pirruccello JP; Division of Cardiology, University of California San Francisco, San Francisco, CA, USA. james.pirruccello@ucsf.edu.
  • Di Achille P; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. james.pirruccello@ucsf.edu.
  • Choi SH; Bakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA, USA. james.pirruccello@ucsf.edu.
  • Rämö JT; Cardiovascular Genetics Center, University of California San Francisco, San Francisco, CA, USA. james.pirruccello@ucsf.edu.
  • Khurshid S; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Nekoui M; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Jurgens SJ; Cardiovascular Disease Initiative, Broad Institute, Cambridge, MA, USA.
  • Nauffal V; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Kany S; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.
  • Ng K; Cardiology Division, Massachusetts General Hospital, Boston, MA, USA.
  • Friedman SF; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
  • Batra P; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA.
  • Lunetta KL; Harvard Medical School, Boston, MA, USA.
  • Palotie A; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Philippakis AA; Harvard Medical School, Boston, MA, USA.
  • Ho JE; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Lubitz SA; Department of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, NL, Netherlands.
  • Ellinor PT; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, University of Amsterdam, Amsterdam, NL, Netherlands.
Nat Commun ; 15(1): 4304, 2024 May 21.
Article em En | MEDLINE | ID: mdl-38773065
ABSTRACT
Increased left atrial volume and decreased left atrial function have long been associated with atrial fibrillation. The availability of large-scale cardiac magnetic resonance imaging data paired with genetic data provides a unique opportunity to assess the genetic contributions to left atrial structure and function, and understand their relationship with risk for atrial fibrillation. Here, we use deep learning and surface reconstruction models to measure left atrial minimum volume, maximum volume, stroke volume, and emptying fraction in 40,558 UK Biobank participants. In a genome-wide association study of 35,049 participants without pre-existing cardiovascular disease, we identify 20 common genetic loci associated with left atrial structure and function. We find that polygenic contributions to increased left atrial volume are associated with atrial fibrillation and its downstream consequences, including stroke. Through Mendelian randomization, we find evidence supporting a causal role for left atrial enlargement and dysfunction on atrial fibrillation risk.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fibrilação Atrial / Estudo de Associação Genômica Ampla / Aprendizado Profundo / Átrios do Coração Limite: Aged / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Nat Commun Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fibrilação Atrial / Estudo de Associação Genômica Ampla / Aprendizado Profundo / Átrios do Coração Limite: Aged / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Nat Commun Ano de publicação: 2024 Tipo de documento: Article