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Study disproves link between gene variant and coronary-disease risk

Results of a massive international study have found that a genetic marker thought to be a predictor of coronary artery disease is actually not. As my colleague explains in a release:

The study analyzed the data from more than 17,000 patients with cardiovascular disease and 40,000 others to assess whether carrying a particular variant of the KIF6 gene indicated a greater risk for coronary artery disease - a disease characterized by a buildup of cholesterol plaque in the walls of the arteries of the heart. The disease can lead to chest pain as well as heart attacks, which are often fatal.

The study found essentially no association between the gene variant and the risk of coronary disease. “This study puts the nail in the coffin,” said Tom Quertermous, MD, the William G. Irwin Professor in Cardiovascular Medicine at Stanford and the study’s senior author. “This is such a big study - if there was a significant association between this variant and coronary disease, we would have found it.”

My colleague notes that the larger message of the research, which appears online in the Journal of the American College of Cardiology, is that "more caution is warranted when using genetic markers to guide health care." Authors of an accompanying editorial in the journal agree, writing that:

Going forward, such genetic and pharmacogenetic markers must be accompanied by stringent vetting by investigators in well-designed, hypothesis-free, genome-wide studies before promoting their use in clinical practice.

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