Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure

Marios Arvanitis; Emmanouil Tampakakis; Yanxiao Zhang; Wei Wang; Adam Auton; 23andMe Research Team; Diptavo Dutta; Stephanie Glavaris; Ali Keramati; Nilanjan Chatterjee; Neil C. Chi; Bing Ren; Wendy S. Post; Alexis Battle

doi:10.1038/s41467-020-14843-7

Nature Communications (Feb 2020)

Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure

Marios Arvanitis,
Emmanouil Tampakakis,
Yanxiao Zhang,
Wei Wang,
Adam Auton,
23andMe Research Team,
Diptavo Dutta,
Stephanie Glavaris,
Ali Keramati,
Nilanjan Chatterjee,
Neil C. Chi,
Bing Ren,
Wendy S. Post,
Alexis Battle

Affiliations

Marios Arvanitis: Department of Biomedical Engineering, Johns Hopkins University
Emmanouil Tampakakis: Department of Medicine, Division of Cardiology, Johns Hopkins University
Yanxiao Zhang: Ludwig Institute for Cancer Research
Wei Wang: 23andMe, Inc.
Adam Auton: 23andMe, Inc.
23andMe Research Team
Diptavo Dutta: Department of Biomedical Engineering, Johns Hopkins University
Stephanie Glavaris: Department of Medicine, Division of Cardiology, Johns Hopkins University
Ali Keramati: Department of Medicine, Division of Cardiology, Johns Hopkins University
Nilanjan Chatterjee: Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health
Neil C. Chi: Department of Medicine, Division of Cardiology, University of California, San Diego
Bing Ren: Ludwig Institute for Cancer Research
Wendy S. Post: Department of Medicine, Division of Cardiology, Johns Hopkins University
Alexis Battle: Department of Biomedical Engineering, Johns Hopkins University

DOI: https://doi.org/10.1038/s41467-020-14843-7
Journal volume & issue: Vol. 11, no. 1
pp. 1 – 12

Abstract

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Heart failure has a heterogeneous etiology and the genetic underpinnings are not well understood. Here, Arvanitis et al. perform GWAS meta-analysis including 10,976 heart failure cases and 437,573 controls, identify new loci near ABO and ACTN2 and show that deletion of a ACTN2 enhancer leads to reduced ACTN2 expression in differentiating cardiomyocytes.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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