ArticleNature communications2020
Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
49 citing papers in PubMed, 2 syntheses or guidelines pooled it, 85 citations in OpenAlex.
- Genome-wide analysis identifies susceptibility loci for heart failure and nonischemic cardiomyopathy subtype in the East Asian populations.PLoS genetics · 2025Pooled it
- Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes.Nature genetics · 2025Pooled it
- Integrated transcriptomic and metabolomic analysis to elucidate key genes and signaling pathways involved in the promotion of periodontitis by hypertension.Scientific reports · 2026Article
- Molecular systems, human noncoding sequence variants, and blood pressure.Physiological reviews · 2026Review
- Deciphering cross-cohort metabolic signatures of immune responses and their implications for disease pathogenesis.Molecular systems biology · 2025Article
- Dissecting regulatory non-coding GWAS loci reveals fibroblast causal genes with pathophysiological relevance to heart failure.Nature communications · 2025Article
- Single-cell transcriptomic profiling reveals cell type heterogeneity between HFpEF and HFrEF.Communications biology · 2025Article
- Differences and similarities between the genetic architecture of lifetime substance use across different substances.Psychological medicine · 2025Article
- Single cell multiomics and 3D genome architecture reveal novel pathways of human heart failure.medRxiv : the preprint server for health sciences · 2025Article
- Dissecting cardiovascular disease-associated noncoding genetic variants using human iPSC models.Stem cell reports · 2025Review
- Discovery of therapeutic targets in cardiovascular diseases using high-throughput chromosome conformation capture (Hi-C).Frontiers in genetics · 2025Review
- Empirical versus estimated accuracy of imputation: optimising filtering thresholds for sequence imputation.Genetics, selection, evolution : GSE · 2024Article
- Actn2 defects accelerates H9c2 hypertrophy via ERK phosphorylation under chronic stress.Genes & genomics · 2024Article
- A transcriptional enhancer regulates cardiac maturation.Nature cardiovascular research · 2024Article
- Cardiac ACTN2 enhancer regulates cardiometabolism and maturation.Nature cardiovascular research · 2024Article
- Identification of Candidate Genes and Pathways Linked to the Temperament Trait in Sheep.Genes · 2024Article
- Lactate- and immunomagnetic-purified hiPSC-derived cardiomyocytes generate comparable engineered cardiac tissue constructs.JCI insight · 2024Article
- Evaluating 17 methods incorporating biological function with GWAS summary statistics to accelerate discovery demonstrates a tradeoff between high sensitivity and high positive predictive value.Communications biology · 2023Article
- Bioinformatics analysis of immune cell infiltration patterns and potential diagnostic markers in atherosclerosis.Scientific reports · 2023Article
- Phenomics and Robust Multiomics Data for Cardiovascular Disease Subtyping.Arteriosclerosis, thrombosis, and vascular biology · 2023Review
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.