[PDF] Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function | Semantic Scholar (2024)

A genome-wide association study of cardiac magnetic resonance imaging-derived left ventricular measurements in 29,041 UK Biobank participants found 26 novel loci associated with cardiac structure and function, which further implicate common genetic polymorphisms in DCM pathogenesis.

Genome-wide analyses of cardiovascular magnetic resonance images identify variants associated with right ventricular structure and function that are associated with dilated cardiomyopathy and coronary artery disease.

A novel potential genetic link between echocardiographic measures in healthy populations and cognitive decline later on in life is revealed and may have important implications for preventative strategies combating Alzheimer’s disease.

The largest GWAS meta-analysis of HF to-date is reported, comprising 47,309 cases and 930,014 controls, and identifies 12 independent variant associations with HF at 11 genomic loci, all of which demonstrate one or more associations with coronary artery disease, atrial fibrillation, or reduced left ventricular function suggesting shared genetic aetiology.

A novel potential genetic link between echocardiographic measures in healthy populations and cognitive decline later on in life is revealed and may have important implications for preventative strategies combating Alzheimer’s disease.

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.

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 reveal a putative causal variant in a cardiac muscle specific regulatory region activated during cardiomyocyte differentiation that binds to the ACTN2 gene.

The largest meta-analysis of heart failure GWAS to-date is conducted and evidence of broadly shared heritability between heart failure and multiple musculoskeletal traits is shown.

62 unique loci were identified by colocalization of haQTLs with the subthreshold loci of heart-related genome-wide association studies datasets, implying a surprising direct association between these specific TF and local histone acetylation in human hearts.

Large-scale genetic analyses of quantitative cardiovascular traits have yielded hundreds of susceptibility loci, candidate genes and key biological pathways, which significantly advance the understanding of their genetic architecture and shed lights on potential novel therapeutic targets.

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5 genetic loci harboring common variants that were associated with variation in LV diastolic dimensions and aortic root size were identified, but such findings explained a very small proportion of variance.

A GWAS meta-analysis of CAD cases and controls provides a comprehensive survey of the fine genetic architecture of CAD, showing that genetic susceptibility to this common disease is largely determined by common SNPs of small effect size.

A meta-analysis of genome-wide association studies of coronary artery disease comprising 22,233 individuals with CAD and 64,762 controls of European descent followed by genotyping of top association signals found 13 loci newly associated with CAD at P < 5 × 10−8 and confirmed the association of 10 of 12 previously reported CAD loci.

The association of 2 478 304 single-nucleotide polymorphisms with incident HF is investigated by meta-analyzing data from 4 community-based prospective cohorts by identifying 2 loci that were associated with incidentHF and exceeded genome-wide significance.

A genome-wide association study of systolic (SBP) and diastolic (DBP) blood pressure and hypertension in the CHARGE Consortium identifies 13 SNPs for SBP, 20 for DBP and 10 for hypertension at P < 4 × 10−7.

This study demonstrates that the monocyte transcriptome is a potent integrator of genetic and non-genetic influences of relevance for disease pathophysiology and risk assessment.

A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function, and these findings suggest potential novel therapeutic pathways for cardiovascular disease prevention.

Common genetic variation in a locus in the 3′-BCL11B gene desert that is thought to harbor 1 or more gene enhancers is associated with higher CFPWV and increased risk for cardiovascular disease.

Variants associated with cholesterol metabolism and type 1 diabetes showed similar phenomena, indicating that large-scale eQTL mapping provides insight into the downstream effects of many trait-associated variants.

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