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

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ID: 100643
2020
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Abstract
Heart failure is a major public health problem affecting over 23 million people worldwide. In this study, we present the results of a large scale meta-analysis of heart failure GWAS and replication in a comparable sized cohort to identify one known and two novel loci associated with heart failure. Heart failure sub-phenotyping shows that a new locus in chromosome 1 is associated with left ventricular adverse remodeling and clinical heart failure, in response to different initial cardiac muscle insults. Functional characterization and fine-mapping of that locus reveal a putative causal variant in a cardiac muscle specific regulatory region activated during cardiomyocyte differentiation that binds to the ACTN2 gene, a crucial structural protein inside the cardiac sarcolemma (Hi-C interaction p-value = 0.00002). Genome-editing in human embryonic stem cell-derived cardiomyocytes confirms the influence of the identified regulatory region in the expression of ACTN2. Our findings extend our understanding of biological mechanisms underlying heart failure.
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arvanitis2020genomewidenature Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Arvanitis, Marios;Tampakakis, Emmanouil;Zhang, Yanxiao;Wang, Wei;Auton, Adam;, ;Dutta, Diptavo;Glavaris, Stephanie;Keramati, Ali;Chatterjee, Nilanjan;Chi, Neil C;Ren, Bing;Post, Wendy S;Battle, Alexis;
Journal Nature communications
Year 2020
DOI
10.1038/s41467-020-14843-7
URL
Keywords
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