Genetic variant common among West African descendants contributes to large cardiovascular disease burden Deborah Balthazar By Deborah Balthazar May 13, 2024

https://www.statnews.com/2024/05/13/genetic-variant-west-african-descendants-adds-cardiovascular-disease-risk/?utm_campaign=morning_rounds&utm_medium=email&_hsenc=p2ANqtz--uun1RQm52WRk34ahKo_vEGwiNjEG1GIQ833cjjOOY_j0HynBtvx7g3pGouL3QZHB2Tj41b87_j2d4ev9nd5G_fEksZA&_hsmi=306900761&utm_content=306900761&utm_source=hs_email A genetic risk factor for heart failure in Black Americans When a protein called transthyretin folds up the wrong way, it can build up in the heart’s muscle layer and sometimes cause heart failure. The most common gene variant causing that misfolding, V142I, originated in western Africa, and occurs in 3% to 4% of people in the U.S. who self-identify as Black or African-American. In a study published yesterday in JAMA, researchers found that Black individuals carrying the V142I variant were at much higher risk of heart failure and death. Heart failure affects African Americans at nearly twice the rate that it affects white people in the U.S. And while this genetic variant doesn’t explain away those racial disparities, it could inform the care and genetic screening offered to Black patients at risk of heart disease. Read more from STAT’s Debbie Balthazar on the implications of the findings for genetic counseling and heart disease.