Pattern of gene expression in circulating blood cells reflect presence, extent of coronary artery disease

In a group of patients undergoing coronary catheterization, researchers have found a pattern of gene expression in circulating blood cells that indicates the presence and extent of coronary artery disease (CAD) according to a report in Circulation: Cardiovascular Genetics, a new journal from the American Heart Association.

If validated in a large, multi-center clinical trial currently underway, the findings could lead to a blood-based molecular diagnostic test to diagnose CAD.

From a group of patients in a catheterization study the investigators identified 41 subjects - 27 with significant CAD and 14 controls without coronary artery narrowing. Researchers performed a whole genome microarray analysis on peripheral blood mononuclear cells (PBMC) and found 526 statistically significant genes with greater than a 1.3 fold change between patients with significant CAD and controls. A separate analysis on 106 genes in a subset of 95 subjects (63 cases, 32 controls) from the same catheterization study found 14 genes that were markers for CAD, even after controlling for clinical and demographic factors, the researchers said.

From a second group of 215 catheterization patients, the researchers selected a case/control subset of 107 patients (86 cases, 21 controls) and replicated their earlier results in 11 of the 14 genes from the first cohort. Analysis of the 14 genes in the 215 patients "demonstrated that gene expression was proportional to the degree of blockage of arteries (maximal coronary artery stenosis)," the researchers said. Thus, the study concludes, "Gene expression in peripheral blood cells reflects the presence and extent of CAD in patients undergoing angiography."

"The content of this new journal will bridge the domains of congenital heart disease, adolescent and adult cardiac disorders, and aging-associated cardiovascular ailments," said Editor Ramachandran S. Vasan, M.D. The new journal will feature research from scientists invested in many different aspects of cardiovascular genetics and genomics including: clinical cardiologists, clinical and basic scientists, trialists, epidemiologists, geneticists, molecular biologists and ethicists.


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