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Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass

Left ventricular mass is a risk marker for cardiovascular events, and may indicate an underlying cardiomyopathy. Cardiac magnetic resonance is the gold-standard for left ventricular mass estimation, but is challenging to obtain at scale. Here, we use deep learning to enable genome-wide association s...

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Autores principales: Khurshid, Shaan, Lazarte, Julieta, Pirruccello, James P., Weng, Lu-Chen, Choi, Seung Hoan, Hall, Amelia W., Wang, Xin, Friedman, Samuel F., Nauffal, Victor, Biddinger, Kiran J., Aragam, Krishna G., Batra, Puneet, Ho, Jennifer E., Philippakis, Anthony A., Ellinor, Patrick T., Lubitz, Steven A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10030590/
https://www.ncbi.nlm.nih.gov/pubmed/36944631
http://dx.doi.org/10.1038/s41467-023-37173-w
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author Khurshid, Shaan
Lazarte, Julieta
Pirruccello, James P.
Weng, Lu-Chen
Choi, Seung Hoan
Hall, Amelia W.
Wang, Xin
Friedman, Samuel F.
Nauffal, Victor
Biddinger, Kiran J.
Aragam, Krishna G.
Batra, Puneet
Ho, Jennifer E.
Philippakis, Anthony A.
Ellinor, Patrick T.
Lubitz, Steven A.
author_facet Khurshid, Shaan
Lazarte, Julieta
Pirruccello, James P.
Weng, Lu-Chen
Choi, Seung Hoan
Hall, Amelia W.
Wang, Xin
Friedman, Samuel F.
Nauffal, Victor
Biddinger, Kiran J.
Aragam, Krishna G.
Batra, Puneet
Ho, Jennifer E.
Philippakis, Anthony A.
Ellinor, Patrick T.
Lubitz, Steven A.
author_sort Khurshid, Shaan
collection PubMed
description Left ventricular mass is a risk marker for cardiovascular events, and may indicate an underlying cardiomyopathy. Cardiac magnetic resonance is the gold-standard for left ventricular mass estimation, but is challenging to obtain at scale. Here, we use deep learning to enable genome-wide association study of cardiac magnetic resonance-derived left ventricular mass indexed to body surface area within 43,230 UK Biobank participants. We identify 12 genome-wide associations (1 known at TTN and 11 novel for left ventricular mass), implicating genes previously associated with cardiac contractility and cardiomyopathy. Cardiac magnetic resonance-derived indexed left ventricular mass is associated with incident dilated and hypertrophic cardiomyopathies, and implantable cardioverter-defibrillator implant. An indexed left ventricular mass polygenic risk score ≥90(th) percentile is also associated with incident implantable cardioverter-defibrillator implant in separate UK Biobank (hazard ratio 1.22, 95% CI 1.05-1.44) and Mass General Brigham (hazard ratio 1.75, 95% CI 1.12-2.74) samples. Here, we perform a genome-wide association study of cardiac magnetic resonance-derived indexed left ventricular mass to identify 11 novel variants and demonstrate that cardiac magnetic resonance-derived and genetically predicted indexed left ventricular mass are associated with incident cardiomyopathy.
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spelling pubmed-100305902023-03-23 Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass Khurshid, Shaan Lazarte, Julieta Pirruccello, James P. Weng, Lu-Chen Choi, Seung Hoan Hall, Amelia W. Wang, Xin Friedman, Samuel F. Nauffal, Victor Biddinger, Kiran J. Aragam, Krishna G. Batra, Puneet Ho, Jennifer E. Philippakis, Anthony A. Ellinor, Patrick T. Lubitz, Steven A. Nat Commun Article Left ventricular mass is a risk marker for cardiovascular events, and may indicate an underlying cardiomyopathy. Cardiac magnetic resonance is the gold-standard for left ventricular mass estimation, but is challenging to obtain at scale. Here, we use deep learning to enable genome-wide association study of cardiac magnetic resonance-derived left ventricular mass indexed to body surface area within 43,230 UK Biobank participants. We identify 12 genome-wide associations (1 known at TTN and 11 novel for left ventricular mass), implicating genes previously associated with cardiac contractility and cardiomyopathy. Cardiac magnetic resonance-derived indexed left ventricular mass is associated with incident dilated and hypertrophic cardiomyopathies, and implantable cardioverter-defibrillator implant. An indexed left ventricular mass polygenic risk score ≥90(th) percentile is also associated with incident implantable cardioverter-defibrillator implant in separate UK Biobank (hazard ratio 1.22, 95% CI 1.05-1.44) and Mass General Brigham (hazard ratio 1.75, 95% CI 1.12-2.74) samples. Here, we perform a genome-wide association study of cardiac magnetic resonance-derived indexed left ventricular mass to identify 11 novel variants and demonstrate that cardiac magnetic resonance-derived and genetically predicted indexed left ventricular mass are associated with incident cardiomyopathy. Nature Publishing Group UK 2023-03-21 /pmc/articles/PMC10030590/ /pubmed/36944631 http://dx.doi.org/10.1038/s41467-023-37173-w Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Khurshid, Shaan
Lazarte, Julieta
Pirruccello, James P.
Weng, Lu-Chen
Choi, Seung Hoan
Hall, Amelia W.
Wang, Xin
Friedman, Samuel F.
Nauffal, Victor
Biddinger, Kiran J.
Aragam, Krishna G.
Batra, Puneet
Ho, Jennifer E.
Philippakis, Anthony A.
Ellinor, Patrick T.
Lubitz, Steven A.
Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass
title Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass
title_full Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass
title_fullStr Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass
title_full_unstemmed Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass
title_short Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass
title_sort clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10030590/
https://www.ncbi.nlm.nih.gov/pubmed/36944631
http://dx.doi.org/10.1038/s41467-023-37173-w
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