New Genetic Association Identified for Heart Failure

23andMe announced that 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 was originally published in the journal Nature Communications.

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

Scientists have long established that there is a genetic component to heart failure. Estimates are that the heritability of heart failure is about 26 percent. But the biological underpinnings of why it develops is poorly understood.

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.

The 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.

Researchers found shared genetics between heart failure and pulmonary, muscloskeletal, and gastrointestinal conditions.

According to 23andMe, people with heart failure often end up with heart problems as their heart weakens. This includes difficulty breathing, fatigue, and swelling of the legs and abdomen. The condition is the leading cause of hospitalization in the United States.

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