Mar 2, 2020 - Research

New Genetic Associations Identified for Heart Failure


Researchers at Johns Hopkins University have identified three genes associated with heart failure, a devastating condition that affects an estimated 23 million people worldwide.


The study, the largest to date genome-wide association study on heart failure, also found shared genetic associations between heart failure and known heart failure risk factors such as hypertension, diabetes, and atrial fibrillation. The scientists also found strong associations with pulmonary conditions and musculoskeletal traits.

New Insight

The study offers researchers new insight into the underlying biology of heart failure, something that is still poorly understood, according to lead author Dr. Marios Arvanitis, a postdoctoral clinical and research fellow at Johns Hopkins University­ Division of Cardiology.


As their heart gradually weakens, people with heart failure often end up with health problems. Those include difficulty breathing, fatigue, and swelling of the legs and abdomen. These effects often lead to other issues, and the condition is the leading cause of hospitalization in the United States. Scientists have long established that there is a genetic component to heart failure. Estimates are that the heritablity of heart failure is about 26 percent. But the biological underpinnings of why it develops is poorly understood.

Three Genes

This study identified three variants associated with the condition in three different genes. One of those genes is involved in the regulation of muscles in the heart. Two of the genetic variants are newly associated with heart failure. The third has been previously identified. The three strongest associations were in the genes PITX2, ACTN2, and ABO.


To identify these genetic associations, researchers first used data from almost half a million individuals, including about 10,000 people with heart failure. This data came mainly from the UK Biobank. The researchers also pooled data from several other studies as part of a meta-analysis. After identifying the three strongest associations, the researchers then replicated their findings. They used data from more than 1.6 million 23andMe customers who consented to participate in research. The 23andMe dataset included data from more than 27,000 individuals with heart failure.

Shared Genetics

The study also looked at the shared genetics between heart failure and several other conditions. Researchers found shared genetics between heart failure and pulmonary, musculoskeletal, and gastrointestinal conditions.


“This is another illustration of 23andMe’s research model,” said Adam Auton, Ph.D., 23andMe’s principal scientist in statistical genetics. “By collaborating with expert researchers outside of 23andMe, we are able to use projects such as this to advance biomedical genetic research.”

The study was published in the journal Nature Communications.

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