Genetic variant common among West African descendants contributes to large cardiovascular disease burden
Among cardiologists, it’s known that transthyretin cardiac amyloidosis, a type of heart disease, is caused by the misfolding of a protein called transthyretin, which builds up in the walls of the heart, causing the muscle to get thicker and stiffer. One reason this can happen is because of a genetic mutation caused by the gene variant V142I, which is commonly found in people of West African descent. In a new study published Sunday in the Journal of the American Medical Association, researchers found that the 3%-4% of self-identified Black individuals carrying this variant had an increased risk for heart failure and death.
Heart failure affects African Americans at nearly twice the rate that it affects white people in the U.S. — and the reason may in part be due to ancestry, not race. But even though the link between V142I and heart failure is well known, researchers did not know how the variant affects people’s risk of heart failure and its association with preserved heart function. Previously, researchers would study patients who already had the disease and came in for treatment. In this study, researchers from Brigham and Women’s Hospital and Duke University School of Medicine looked at the natural history of the disease by drawing on data from four National Institutes of Health-funded studies in the U.S. Their findings suggest an opportunity to provide more genetic counseling and screening for African Americans.
