Genetics/Genomics News

After 12 years of follow-up, the penetrance of hypertrophic cardiomyopathy in phenotype-negative but at-risk child relatives was 6%, according to recent study data published in Circulation.

Joseph Wu, MD, PhD, associate professor of cardiovascular medicine and radiology, and Robert Harrington, MD, professor and chair of medicine, both at Stanford School of Medicine, were appointed co-directors of the Stanford Cardiovascular Institute, a center for research and advancements in clinical care for patients with CVD.

ATLANTA — Patients with variation in the MRP2, RAC2 and HFE genes had up to a threefold higher risk of developing heart failure following hematopoietic stem cell transplantation compared with controls, according to study results presented at the 2012 ASH Annual Meeting and Exposition.

In the largest genetic study of CAD to date, researchers for the CARDIoGRAMplusC4D Consortium have identified 15 genetic regions newly associated with the disease. This research brings the total number of validated genetic links with CAD discovered through genome-wide association studies to 46, according to a press release.

In a large genetic study of cholesterol and other lipids, an international consortium identified 21 new gene variants associated with risks for CVD and metabolic disorders. These findings expand the list of potential targets for drugs and other treatments for lipid-related CVD, researchers said.

In the past 10 years, researchers have conducted hundreds of studies to identify regions in the human genome that are somehow linked to disease. In a recent NIH-supported study published in Science, researchers said they have found the link between genetic variants and gene regulation in common diseases such as cancer, CVD, diabetes and neurological diseases.

Data from an exploratory study suggest that blood pressure and aldosterone production may be affected by variations in the potassium channel gene KCNK9, signaling a risk for hypertension in otherwise healthy patients.

Utilizing genome-wide association studies, the deCODE group has identified a single nucleotide polymorphism in the alpha-myosin heavy chain — MYH6 — that predisposes to sick sinus syndrome.

New genetic research fails to support a causal association between higher concentrations of HDL and lower risk for MI.

The American Heart Association released a new policy statement recommending new regulations to safeguard the rapid advancements in genetic disease research.