Deep learning of left atrial structure and function provides link to atrial fibrillation risk

James P. Pirruccello (), Paolo Achille, Seung Hoan Choi, Joel T. Rämö, Shaan Khurshid, Mahan Nekoui, Sean J. Jurgens, Victor Nauffal, Shinwan Kany, Kenney Ng, Samuel F. Friedman, Puneet Batra, Kathryn L. Lunetta, Aarno Palotie, Anthony A. Philippakis, Jennifer E. Ho, Steven A. Lubitz and Patrick T. Ellinor
Additional contact information
James P. Pirruccello: University of California San Francisco
Paolo Achille: Broad Institute of MIT and Harvard
Seung Hoan Choi: Broad Institute
Joel T. Rämö: Broad Institute of MIT and Harvard
Shaan Khurshid: Broad Institute of MIT and Harvard
Mahan Nekoui: Broad Institute of MIT and Harvard
Sean J. Jurgens: Broad Institute of MIT and Harvard
Victor Nauffal: Broad Institute of MIT and Harvard
Shinwan Kany: Broad Institute of MIT and Harvard
Kenney Ng: IBM Research
Samuel F. Friedman: Broad Institute of MIT and Harvard
Puneet Batra: Broad Institute of MIT and Harvard
Kathryn L. Lunetta: Boston University School of Public Health
Aarno Palotie: University of Helsinki
Anthony A. Philippakis: Broad Institute of MIT and Harvard
Jennifer E. Ho: Broad Institute of MIT and Harvard
Steven A. Lubitz: Broad Institute of MIT and Harvard
Patrick T. Ellinor: Broad Institute of MIT and Harvard

Nature Communications, 2024, vol. 15, issue 1, 1-17

Abstract: 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.

Date: 2024
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-48229-w

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DOI: 10.1038/s41467-024-48229-w

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