A groundbreaking study led by researchers at Brigham and Women’s Hospital and Duke University sheds light on the significant health risks posed by the V142I transthyretin variant within the US Black population. Published in the JAMA Network, the study underscores the concerning impact of this genetic variant on heart health and longevity.
“The V142I transthyretin variant, prevalent in three to four percent of self-identified Black individuals in the US, is associated with an increased risk of heart failure and death,” explained lead author Dr. Senthil Selvaraj from Duke University School of Medicine. Drawing from data from over 20,000 self-identified Black individuals, the study estimates that carriers of this variant could collectively lose approximately a million years of life.
The National Newspaper Publishers Association (NNPA) and Pfizer Inc. have been working with partners in various cities in the U.S. to raise awareness of this “serious but under-diagnosed condition that causes heart failure among African Americans and Afro-Caribbeans.” The NNPA is the trade association of the more than 250 African American-owned newspapers and media companies comprising the 197-year-old Black Press of America.
Senior author Dr. Scott D. Solomon, from Brigham and Women’s Hospital and Harvard Medical School, emphasizes the significance of these findings for both clinicians and patients. “We believe these data will inform clinicians and patients regarding risk when these genetic findings are known, either through family screening, medical, or even commercial genetic testing,” he said.
The study revealed that individuals carrying the V142I variant face a substantially elevated risk of heart failure, starting in their 60s, and an increased risk of death, beginning in their 70s. On average, carriers die two to two and a half years earlier than expected. With nearly half a million Black American carriers over the age of 50, the implications are profound.
Transthyretin, a protein in the blood, misfolds when the V142I variant is present. This causes abnormal amyloid protein to build up in the heart and other body parts. This process results in cardiac amyloidosis, a condition characterized by thickening and stiffening of the heart muscle, ultimately leading to heart failure.
Despite the grim outlook, there is hope on the horizon. “There are now several potential new therapies for cardiac amyloidosis, and understanding the magnitude of this risk, at the individual and societal level, will help determine which patients might be best suited for novel therapies,” Dr. Solomon stated.
The study’s comprehensive insights were made possible by pooling data from four NIH-funded studies (ARIC, MESA, REGARDS, and Women’s Health Initiative). “Since 3–4 percent of self-identified Black individuals in the United States carry this variant, a significant number are at elevated risk for developing cardiac amyloidosis, being hospitalized for heart failure, and dying several years earlier than expected,” Dr. Selvaraj added.
With a better understanding of the risks associated with the V142I variant, efforts to raise awareness and facilitate access to treatments will be crucial in improving outcomes for affected individuals. Medical officials said the findings highlight the importance of genetic screening and personalized healthcare interventions in addressing the health disparities faced by the US Black population.
