Genetic Risk Score Tallies Heart Disease Odds


October 16, 2007

October 16, 2007 – Celera developed a five-gene genetic risk score based on five variant genes that predict risk for coronary heart disease (CHD), according to a study published in the October 2007 edition of Genetics in Medicine, marking the potential development of personalized disease management in the cardiovascular arena.

Results from the Atherosclerosis Risk in Communities (ARIC) study and two independent case-control studies described the development of a Genetic Risk Score (GRS) based on five gene variants that predicts risk for coronary heart disease (CHD). These variant genes were KIF6, MYH15, PALLD, SNX19 and VAMP8. The GRS of each ARIC participant depended on how many of these risk variants an individual had.

After adjusting for traditional risk factors, those individuals with a high risk GRS had a 57 percent increased risk of incident CHD, which is similar to the magnitude of risk for CHD associated with smoking, hypertension, hypercholesterolemia or obesity.

For each of the five variants, the participant’s GRS was increased by 1 if the participant was homozygous (had two copies of the variant) for the risk variant, unchanged if heterozygous (one copy), and decreased by 1 if the individual did not carry the risk variant. Therefore, individuals carrying all 10 possible risk variants were assigned a GRS of 5 and those carrying no risk variants were assigned a GRS of -5. A high GRS was defined as a GRS of 3 or higher. Approximately 4 percent of the Caucasian cohort in the ARIC study was classified as high risk, and this high-risk group had a 52 percent higher CHD event rate compared to the rest of the individuals. A similar trend was observed for African American participants in the study.

“Physicians need a better assessment of an individual’s risk for coronary heart disease than that obtained using traditional risk factors alone,” said James T. Willerson, M.D., president of The University of Texas Health Science Center at Houston, and president-elect Texas Heart Institute, and a co-author on the study. “Applying the results of this research study towards the development of a diagnostic test to determine genetic risk for coronary heart disease could lead to more effective prevention and treatment for patients.”


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