Data from the 1000 Genomes Project were used in a pair of recent publications that have investigated inherited risk for heart disease in children and adults.
In one study, published in Frontiers in Pediatrics, scientists used data from the 1000 Genomes Project to investigate a rare inherited risk factor for a disease called long QT syndrome, which is a form of heart disease that can cause sudden death in infants. The paper’s authors advocate for genetic testing in infants with long QT syndrome to better understand the disease itself and to test relatives to identify additional risk and improve care for their children.
The second study, published in The Journal of American College of Cardiology, used data from the 1000 Genomes Project to investigate new inherited risk factors for adult heart disease. These scientists focused on Lipoprotein (a), which carries cholesterol in the blood and can impact heart disease risk. This work identified variation in the gene called LPA that reduces the amount of Lipoprotein (a) in the blood and thereby reduces heart disease risk as well.
The first research article, “Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death” by Sarquella-Brugada, et al., was published in Frontiers in Pediatrics.
The second research article, “Frequent LPA KIV-2 Variants Lower Lipoprotein(a) Concentrations and Protect Against Coronary Artery Disease” by Schachtl-Riess et al., was published in The Journal of American College of Cardiology.
