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GWAS Study

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

Pirruccello JP, Di Achille P, Choi SH et al.

38773065 PubMed ID
GWAS Study Type
35049 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

PJ
Pirruccello JP
DA
Di Achille P
CS
Choi SH
RJ
Rämö JT
KS
Khurshid S
NM
Nekoui M
JS
Jurgens SJ
NV
Nauffal V
KS
Kany S
NK
Ng K
FS
Friedman SF
BP
Batra P
LK
Lunetta KL
PA
Palotie A
PA
Philippakis AA
HJ
Ho JE
LS
Lubitz SA
EP
Ellinor PT
Chapter II

Abstract

Summary of the research findings

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.

35,049 individuals

Chapter III

Study Statistics

Key metrics and study information

35049
Total Participants
GWAS
Study Type
No
Replicated
U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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