ArticleCirculation2019
Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery.
Article in Circulation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 10 of them syntheses that pooled it.
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Who cites it
94 citing papers in PubMed, 10 syntheses or guidelines pooled it, 174 citations in OpenAlex.
- Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population.Nature communications · 2025Pooled it
- 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 and multi-trait analyses characterize the common genetic architecture of heart failure.Nature communications · 2022Pooled it
- Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.European heart journal · 2022Pooled it
- Association of alcohol consumption with morbidity and mortality in patients with cardiovascular disease: original data and meta-analysis of 48,423 men and women.BMC medicine · 2021Pooled it
- Genetically predicted education attainment in relation to somatic and mental health.Scientific reports · 2021Pooled it
- Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.Nature genetics · 2021Pooled it
- The impact of growth differentiation factor 15 on the risk of cardiovascular diseases: two-sample Mendelian randomization study.BMC cardiovascular disorders · 2020Pooled it
- Meta-Analysis of 26 638 Individuals Identifies Two Genetic Loci Associated With Left Ventricular Ejection Fraction.Circulation. Genomic and precision medicine · 2020Pooled it
- Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.Nature communications · 2020Pooled it
- Disease penetrance and phenotypic spectrum of desmoplakin variant carriers in the population.Heart rhythm · 2026Article
- Polygenic background contributes to GCK-MODY clinical presentation and glycaemic variability.Diabetologia · 2026Article
- Clinical Phenotypes in Hypertension: A Data-Driven Approach to Risk Stratification.Hypertension (Dallas, Tex. : 1979) · 2026Article
- Proteomic Signatures of Cardiac Dysfunction Among People With Diabetes: The Atherosclerosis Risk in Communities Study.Circulation. Heart failure · 2026Article
- J-shaped associations of serum urate with all-cause and cause-specific mortality in diabetes: mediation by kidney function.Acta diabetologica · 2026Article
- Arrhythmia-induced cardiomyopathy: focus on atrial fibrillation.Nature reviews. Cardiology · 2026Review
- Article
- An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy.Nature genetics · 2025Article
- Polygenic Susceptibility in Peripartum, Alcohol-Induced, and Cancer Therapy-Related Cardiomyopathies.JAMA cardiology · 2025Article
- Arrhythmia-Induced Cardiomyopathy in Atrial Fibrillation: Pathogenesis, Diagnosis, and Treatment.Life (Basel, Switzerland) · 2025Review
34 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 5 institutions in 3 countries.
Funding
Abstract
backgroundHeart failure (HF) is a morbid and heritable disorder for which the biological mechanisms are incompletely understood. We therefore examined genetic associations with HF in a large national biobank, and assessed whether refined phenotypic classification would facilitate genetic discovery.
methodsWe defined all-cause HF among 488 010 participants from the UK Biobank and performed a genome-wide association analysis. We refined the HF phenotype by classifying individuals with left ventricular dysfunction and without coronary artery disease as having nonischemic cardiomyopathy (NICM), and repeated a genetic association analysis. We then pursued replication of lead HF and NICM variants in independent cohorts, and performed adjusted association analyses to assess whether identified genetic associations were mediated through clinical HF risk factors. In addition, we tested rare, loss-of-function mutations in 24 known dilated cardiomyopathy genes for association with HF and NICM. Finally, we examined associations between lead variants and left ventricular structure and function among individuals without HF using cardiac magnetic resonance imaging (n=4158) and echocardiographic data (n=30 201).
resultsWe identified 7382 participants with all-cause HF in the UK Biobank. Genome-wide association analysis of all-cause HF identified several suggestive loci (
conclusionsWe found several distinct genetic mechanisms of all-cause HF in a national biobank that reflect well-known HF risk factors. Phenotypic refinement to a NICM subtype appeared to facilitate the discovery of genetic signals that act independently of clinical HF risk factors and that are associated with subclinical left ventricular dysfunction.
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