Genetics/Genomics News

NEW ORLEANS — Compared with the general population, people with genotyped familial hypercholesterolemia have elevated risk for CVD and CV mortality, and the difference is greatest at younger ages, according to registry data presented at the American Heart Association Scientific Sessions.

NEW ORLEANS — In individuals with high genetic risk, those with a favorable lifestyle focusing on no smoking, no obesity, regular physical activity and a healthy diet were less likely to develop CAD compared with those with an unfavorable lifestyle, according to data presented at the American Heart Association Scientific Sessions.

NEW ORLEANS —The melanocortin-4-receptor protein is key to modulating food preference in humans and can have a unique influence on adults with obesity, according to a speaker at ObesityWeek.

“We sought to overcome these limitations [of previous studies] and assess the feasibility and efficacy of child-parent familial hypercholesterolemia screening in a large study of primary care practices by analyzing data on both cholesterol level and familial hypercholesterolemia mutation,” David S. Wald, FRCP, Wolfson Institute of Preventive Medicine, Queen Mary University of London, and colleagues wrote.

Sudden unexpected death occurs in an estimated 11,000 people aged younger than 45 years in the United States each year. A comprehensive molecular autopsy program could potentially provide more detailed and accurate health information for families affected by sudden unexpected death.

Adults with naturally occurring genetic variants known to reduce LDL cholesterol are also more likely to develop type 2 diabetes vs. those who do not have the genetic variants, according to study findings published in JAMA.

Researchers found that the messenger RNA of a platelet-related gene was lower in people with CVD than in those without it, suggesting that downregulation of the gene may be associated with CVD pathogenesis.

The first systematic analysis of RNA sequence data from blood, vascular and metabolic tissues from patients with CAD has uncovered a new level of complexity and interaction among genes responsible for the inherited risk for MI, stroke and related cardiometabolic diseases.

Patients with a history of stroke have double the risk for late-onset Alzheimer’s disease in its familial and sporadic forms, researchers reported in JAMA Neurology.

Benign variants are disproportionately misclassified as pathogenic in genetic testing for hypertrophic cardiomyopathy in black Americans because of lack of diversity in genome sequencing, according to a study published in The New England Journal of Medicine.