Identification of novel genetic variants associated with heart failure

Identification of novel genetic variants associated with heart failure

Genome-wide associations of heart failure. Results of a multistrain GWAS meta-analysis of all-cause heart failure, which was conducted using a fixed-effect inverse variance-weighted model. Manhattan plot of associations of genetic significance at the genome level (p−8). Each dot represents a genetic variant. Variants are located in red +/500 kb for a significant genome-wide locus. The x-axis represents the genomic position, and the y-axis represents the strength of association as represented by −log10(p-value). Candidate B genes were mapped to each variant of interest at the genome-wide level (p−8) in the analyzes for multiple origins and ancestry (based on proximity to nearest transcription start site). Candidate genes are grouped by chromosome. Candidate genes not previously reported (>500 kb from a previously reported locus) are indicated with stars. The size of each point corresponds to the strength of the correlation as represented by −log10(p-value). When several independent variants map to the same gene, only the strongest association is shown. credit: Nature Communications (2022). DOI: 10.1038/s41467-022-34216-6

Scientists have identified new genetic variants associated with heart failure, according to a study published in the journal Nature Communications.

The study, which analyzed the genomes and ancestry of more than 115,000 patients with heart failure, details 47 risk loci in human genes Genetic variants may indicate an increased risk of heart failure. In addition, the researchers identified nine circulating proteins associated with heart failure or specific quantitative imaging features.

This finding highlights the importance of common genetic variations in the pathogenesis of heart failure, said Megan Roy Buckelwartz, PhD, assistant professor of pharmacology and co-author of the study.

Buckelwartz said: “This study opens up new ways to think about heart failure”. “These sites are now a target for treatment and because we are also showing the strength of the association between heart failure and cardiovascular imaging features, we can use these as markers to determine someone’s risk of developing heart failure.”

The Centers for Disease Control and Prevention estimates that nearly 6.2 million Americans have some form of heart failure — which means that the heart can’t pump enough blood to support the body, but the heart never stops beating completely.

Heart failure is common, and the role genes play in this condition is complex. Prior to this study, only 11 common risk loci for heart failure had been identified using genome-wide association, a research method that links genetic variants across the genome with heart failure.

To better understand the links between genes and heart failure, the study authors conducted a meta-analysis of genome-wide association studies for heart failure and included more than 1.6 million controls of diverse genetic origins.

Next, the researchers compared the newly identified genetic risk variants with other cardiomyopathy traits, including: Atrial fibrillationbody mass index, coronary artery disease, blood pressure, and cholesterol levels. They found that the heart failure risk variables were associated with an increase blood pressure And Coronary heart disease.

Finally, the study authors performed a random Mendelian analysis of 725 human proteins and found that nine were associated with heart failure risk variants.

Elizabeth McNally, MD, professor of genetic medicine, said. “By evaluating such a large number of heart failure patients, it was possible to find them New genes and proteins implicated in heart failure “.

some of the genes She said the proteins would be useful for predicting who is at risk of heart failure and could also be future targets for treatment.

“We hope to build from these observations and combine rare genetic changes with these types of genetic variants” common “So we can better predict who is likely to apply to Heart failure McNally, who is also the director of the Center for Genetic Medicine, said:

more information:
Levine et al., Genome-wide association and multi-trait analyzes characterize common genetic architecture for heart failure, Nature Communications (2022). DOI: 10.1038/s41467-022-34216-6

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