New research discovers genetic defect linked to African Americans with heart failure

March 7, 2018, University of South Florida
Stephen Liggett, MD, professor of internal medicine and vice dean for research at the University of South Florida Morsani College of Medicine, Tampa, Fla., led the first genetic study of its kind to examine the genetic basis of heart failure in African Americans. Credit: University of South Florida

Heart failure is more common, develops earlier and results in higher rates of illness and death in African Americans than in whites.

Now, the first genetic study of its kind to examine the genetic basis of failure in African Americans, led by the University of South Florida (USF), Tampa, Fla., has identified a linked specifically to heart failure in this population. The discovery could lead to more precise and effective treatments for African Americans, who are more likely to suffer from a common form of heart failure of unknown cause called idiopathic dilated cardiomyopathy (IDC). IDC is a condition in which the heart weakens, cannot pump blood properly and becomes progressively enlarged.

The study was published Feb. 26 in the Journal of Personalized Medicine.

"We know that this form of heart failure has a worse prognosis in African Americans and does not respond as effectively to most therapies as compared to the same treatments in Caucasian individuals of European descent. Yet, there had never been a genome-wide association study performed exclusively in African Americans," said senior author and project director Stephen B. Liggett, MD, professor of internal medicine and vice dean for research at the USF Health Morsani College of Medicine.

"We undertook this study because of the severe under-representation of African Americans in these types of trials, and, our idea that the genetic causes might be different in this population," Dr. Liggett added. "Our genome-wide analysis suggests that is indeed the case, and we may need to develop new drugs to target IDC in African Americans."

The Genetics of African American Heart Failure consortium examined genetic variations in the genomes of 662 African-American patients recruited from five U.S. academic medical centers: the University of Cincinnati College of Medicine, Duke University School of Medicine, Johns Hopkins University School of Medicine, University of Maryland College of Medicine, and the Virginia Commonwealth University School of Medicine. All the study participants had no history of heart attacks and were diagnosed with IDC.

The researchers found that a variation in one gene, called CACNB4, could contribute to causing IDC in African Americans. That same genetic defect has not been found in white patients with IDC. More study is needed, Dr. Liggett said, but CACNB4 plays a key role in regulating calcium signaling important for cardiac muscle contraction, so a variation that interferes with the gene's function may lead to diminished pumping of blood by the heart.

In addition, variations in other genes suggested an association with IDC in individuals with African-American ancestry. So, the researchers mapped the biochemical pathways of these 1,000 genes, which created a network indicating the potential action by which these variations lead to IDC, and possible targets for new drugs. The consortium's analysis showed that genetic variations in African Americans account for 33 percent of the risk for IDC. And, many genes forming the pathway map were involved in how calcium regulates the work of .

Dr. Liggett and his collaborators use various research methods, including examining in different ethnic groups, with the aim of understanding how to best devise for treatment or prevention of heart failure. "Every time we perform these genetic studies, we learn something new and find another piece of the puzzle," he said, "Ultimately the dissection of this cardiovascular disease will lead to drugs that strike at damaging pathways with a high level of precision, resulting in personalized for heart ."

Nearly 6 million people in the United States have , a figure projected to increase to 8 million by 2030, according to the American Heart Association. The five-year mortality rates range from 30 to 50 percent, greater than for some cancers.

Explore further: Low levels of hormone in African-Americans may increase hypertension

More information: Huichun Xu et al, A Genome-Wide Association Study of Idiopathic Dilated Cardiomyopathy in African Americans, Journal of Personalized Medicine (2018). DOI: 10.3390/jpm8010011

Related Stories

Low levels of hormone in African-Americans may increase hypertension

June 10, 2015
Although hypertension is more common in African-Americans, they have significantly lower levels of a hormone produced in response to cardiac stress than white and Hispanic individuals, a finding that may indicate a target ...

Stubborn inequities in heart health persist for some African Americans in the South

August 15, 2016
Though mortality from heart disease is decreasing, some groups are at increased risk for developing heart disease, including African Americans in the southeastern U.S. Nearly 44 percent of all African American men, and 48 ...

African Americans live shorter lives due to heart disease and stroke

October 23, 2017
The average lifespan of African Americans is significantly shorter than white Americans, mostly because of heart disease and stroke, which contributed to more than two million years of life lost among African Americans between ...

Study identifies two new genes responsible for Alzheimer's disease among African-Americans

October 25, 2016
Researchers have identified two new genetic risk factors for Alzheimer's disease (AD) among African Americans.

Flu shot may curb respiratory infections in people with heart failure

February 2, 2017
(HealthDay)—Flu and pneumonia vaccines may reduce heart failure patients' risk of dangerous respiratory infections, a new review suggests.

Recommended for you

Study reveals a promising alternative to corticosteroids in acute renal failure treatment

September 21, 2018
A protein produced by the human body appears to be a promising new drug candidate to treat conditions that lead to acute renal failure. This is shown by a study conducted at São Paulo State University (UNESP) in São José ...

Can a common heart condition cause sudden death?

September 20, 2018
About one person out of 500 has a heart condition known as hypertrophic cardiomyopathy (HCM). This condition causes thickening of the heart muscle and results in defects in the heart's electrical system. Under conditions ...

New drugs could reduce risk of heart disease when added to statins

September 20, 2018
New drugs that lower levels of triglycerides (a type of fat) in blood could further reduce the risk of heart attack when added to statins. These new drugs, which are in various stages of development, could also reduce blood ...

Mediterranean-style diet may lower women's stroke risk

September 20, 2018
Following a Mediterranean-style diet may reduce stroke risk in women over 40 but not in men—according to new research led by the University of East Anglia.

Inflammation critical for preventing heart attacks and strokes, study reveals

September 19, 2018
Inflammation, long considered a dangerous contributor to atherosclerosis, actually plays an important role in preventing heart attacks and strokes, new research from the University of Virginia School of Medicine reveals.

People who walk just 35 minutes a day may have less severe strokes

September 19, 2018
People who participate in light to moderate physical activity, such as walking at least four hours a week or swimming two to three hours a week, may have less severe strokes than people who are physically inactive, according ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.