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Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum

Common-variant and rare-variant association analyses combining datasets from multiple populations yield insights into the genetic architecture of all-cause heart failure across the allele-frequency spectrum.

David S. M. Lee
Kathleen M. Cardone
Scott M. Damrauer
Research07 Apr 2025
Nature Genetics

Volume: 57, P: 829-838
Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes

Genome-wide association analyses identify new risk loci for heart failure and its subtypes, extending understanding of the underlying biological pathways and disease mechanisms.

Albert Henry
Xiaodong Mo
R. Thomas Lumbers
ResearchOpen Access04 Mar 2025
Nature Genetics

Volume: 57, P: 815-828
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy

Genome-wide association analyses comprising 14,256 cases and 1,199,156 controls and incorporating correlated cardiac magnetic resonance imaging traits provide insights into the molecular etiology of dilated cardiomyopathy.

Sean L. Zheng
Albert Henry
R. Thomas Lumbers
ResearchOpen Access21 Nov 2024
Nature Genetics

Volume: 56, P: 2646-2658
Cardiac NAD⁺ depletion in mice promotes hypertrophic cardiomyopathy and arrhythmias prior to impaired bioenergetics

Doan et al. show that loss of cardiac NAD⁺ is sufficient to drive metabolic derangements, hypertrophic remodeling and lethal arrhythmias in adult mouse hearts, despite maintenance of ejection fraction and bioenergetics.

Khanh V. Doan
Timothy S. Luongo
Joseph A. Baur
Research18 Sept 2024
Nature Cardiovascular Research

Volume: 3, P: 1236-1248
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Heart failure is a complex syndrome that is associated with many different underlying risk factors. Here, to increase power, the authors jointly analyse cases of heart failure of different aetiologies in a genome-wide association study and identify 11 loci of which ten had not been previously reported.

Sonia Shah
Albert Henry
R. Thomas Lumbers
ResearchOpen Access09 Jan 2020
Nature Communications

Volume: 11, P: 1-12
Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

Thyroid dysfunction is involved in many diseases. Here, the authors provide insights into the genetics and biological pathways influencing important thyroid function parameters, showing potential causal effects on many clinical outcomes.

Rosalie B. T. M. Sterenborg
Inga Steinbrenner
Marco Medici
ResearchOpen Access30 Jan 2024
Nature Communications

Volume: 15, P: 1-18
Integrated landscape of cardiac metabolism in end-stage human nonischemic dilated cardiomyopathy

Arany and colleagues integrate metabolomics data, tissue RNA-sequencing data and proteomics data from explanted hearts of patients with end-stage heart failure to provide a comprehensive ‘multi-omic’ evaluation of the metabolic pathways affected by heart failure.

Emily Flam
Cholsoon Jang
Zolt Arany
Research29 Aug 2022
Nature Cardiovascular Research

Volume: 1, P: 817-829
Nitric oxide regulates the heart by spatial confinement of nitric oxide synthase isoforms

Lili A. Barouch
Robert W. Harrison
Joshua M. Hare
Research21 Mar 2002
Nature

Volume: 416, P: 337-339
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Christopher Newton-Cheh and colleagues report genome-wide association analyses for QT interval, an electrocardiographic measure reflecting myocardial repolarization, in 100,000 individuals. They identify 35 loci associated with QT interval and highlight a role for calcium regulation in myocardial repolarization.

Dan E Arking
Sara L Pulit
Christopher Newton-Cheh
Research22 Jun 2014
Nature Genetics

Volume: 46, P: 826-836
Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure

The genetic and pathogenetic basis of heart failure is incompletely understood. Here, the authors present a high-fidelity tissue collection from rapidly preserved failing and non-failing control hearts which are used for eQTL mapping and network analysis, resulting in the prioritization of PPP1R3A as a heart failure gene.

Pablo Cordero
Victoria N. Parikh
Euan A. Ashley
ResearchOpen Access24 Jun 2019
Nature Communications

Volume: 10, P: 1-14
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure

Heart failure is a major cause of cardiovascular morbidity and mortality. Here, the authors report results of a genome-wide association study meta-analysis, characterizing the role of common genetic variants in heart failure, finding overlap with common cardiovascular risk factors and imaging measures of cardiac structure/function.

Michael G. Levin
Noah L. Tsao
Scott M. Damrauer
ResearchOpen Access14 Nov 2022
Nature Communications

Volume: 13, P: 1-15
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

Thyroid dysfunction is a common public health problem and associated with cardiovascular co-morbidities. Here, the authors carry out genome-wide meta-analysis for thyroid hormone (TH) levels, hyper- and hypothyroidism and identify SLC17A4 as a TH transporter and AADAT as a TH metabolizing enzyme.

Alexander Teumer
Layal Chaker
Marco Medici
ResearchOpen Access26 Oct 2018
Nature Communications

Volume: 9, P: 1-14
Bayesian integration of genetics and epigenetics detects causal regulatory SNPs underlying expression variability

Das et al. present a novel Bayesian approach called expression Quantitative Trait enhancer Loci (eQTeL), which effectively integrates genetic and epigenetic information to identify combination of regulatory genomic variants underlying expression variance. Using various functional data, the authors show the variants identified by eQTeL are likely to be causal.

Avinash Das
Michael Morley
Sridhar Hannenhalli
ResearchOpen Access12 Oct 2015
Nature Communications

Volume: 6, P: 1-11
Multi-ethnic genome-wide association study for atrial fibrillation

This large, multi-ethnic genome-wide association study identifies 97 loci significantly associated with atrial fibrillation. These loci are enriched for genes involved in cardiac development, electrophysiology, structure and contractile function.

Carolina Roselli
Mark D. Chaffin
Patrick T. Ellinor
Research11 Jun 2018
Nature Genetics

Volume: 50, P: 1225-1233
Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos

Tamar Sofer
Quenna Wong
Nora Franceschini
ResearchOpen Access04 Sept 2017
Scientific Reports

Volume: 7, P: 1-12

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