A new study led by researchers at Brigham and Women’s Hospital and Duke University has uncovered the significant health risks posed by the V142I transthyretin variant within the US Black population. The study, published in the JAMA Network, reveals that this genetic variant, present in 3-4% of self-identified Black individuals in the US, is associated with an increased risk of heart failure and death.
Dr. Senthil Selvaraj from Duke University School of Medicine, the lead author of the study, estimates that carriers of this variant could collectively lose approximately a million years of life. The research, which drew data from over 20,000 self-identified Black individuals, shows that carriers face a substantially elevated risk of heart failure starting in their 60s and an increased risk of death beginning in their 70s.
The V142I variant causes transthyretin, a protein in the blood, to misfold, leading to a buildup of abnormal amyloid protein 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. Dr. Scott D. Solomon from Brigham and Women’s Hospital and Harvard Medical School highlights that several potential new therapies for cardiac amyloidosis are now available. Understanding the magnitude of this risk will help determine which patients might be best suited for these novel therapies.
The study’s findings underscore the importance of genetic screening and personalized healthcare interventions in addressing health disparities faced by the US Black population.
