This Genetic Variant Could Heighten Heart Disease Among Black Americans

Longevity in Black Americans is at risk for new reasons, according to research. It’s estimated that approximately a million years of Black life will be lost due to a new variant discovered among currently living Black individuals. A study conducted at Brigham and Women’s Hospital and Duke University School of Medicine details the genetic variant and how it impacts the heart’s conditions among Black Americans.

What is the V142I variant?

The variant, V142I, alters transthyretin, a protein found in the blood. The altering of transthyretin causes abnormal production (misfold) of amyloid, another protein, in the heart and other parts of the body. Amyloid causes the heart to become thick and stiffened, leading to a condition called cardiac amyloidosis, which can cause heart failure. 

Individuals have no control over the variant’s development. “The variant is hereditary, so people are born with either zero, one, or two copies,” confirms Dr. Senthil Selvaraj Assistant Professor of Medicine, Division of Cardiology, at Duke University School of Medicine.

This Genetic Variant Could Heighten Heart Disease Among Black Americans

How many Black people have the V142I variant?

Researchers discovered the effect V142I has on Black Americans by examining data from 23,338 self-reported Black individuals. 754, or 3.23%, carried the V142I genetic variant. The study showed that V142I increased the risk of heart failure hospitalization by age 63 and the risk of death by age 72. The team concluded that individual carriers with the V142I variant live 2-2.5 years less than expected. The study also showed that both female and male carriers of the variant are equally at risk, suggesting that women are likely underdiagnosed with the condition. 

The association between the V142I variant and heart failure has been made before, but precise estimates have now been made clear. Approximately 48 million Americans self-identify as Black, and 1.5 million across the lifespan are estimated to carry this variant. 

Side effects of the V142I variant

Though the variant is hereditary, there are steps one can take to detect the variant and lower the risks of its effects. “Some people might get genetic testing for other reasons where they might do something like 23andme,” explains Selvaraj, “So if this genetic variant is found, it is recommended to seek clinical care because we think that we’re able to follow this person to make sure they’re not developing the disease or developing symptoms associated with the disease.” 

If a patient feels symptoms of cardiac amyloidosis, which are similar to symptoms of heart failure—that includes shortness of breath, leg swelling, and irregular heartbeat—a doctor might run genetic testing. There are treatments designed to target the abnormal protein. One type of treatment involves stabilizers, “a medication that stabilizes the protein and prevents it from misfolding,” There are also silencer treatments, “which means that we’re decreasing the production of the protein itself,” Selvaraj continues. Another option is depletion therapy, “which means we’re trying to remove the abnormal protein from the body.” The last category is gene testing, “Gene editing has had a great promising impact in sickle cell disease, as one category of diseases where it seems to have some medical therapeutic purpose, and there are ongoing clinical trials for gene editing that include cardiac amyloid.” 

Though this new research highlights an inherited variant that affects the longevity of Black Americans, high mortality rates from heart health among Black people have less to do with genetics and more to do with lifestyle changes. According to the U.S. Department of Health and Human Services Office of Minority Health, 4 out of 5 African American women are overweight or obese, and almost 40% of African American adult men are considered obese. People who are overweight are more likely to suffer from risk factors that contribute to heart disease and strokes.

Read More About Cardiology