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Celera Hopes to Translate Genetic Heart Disease Research Into Diagnostic Tool

NEW YORK (GenomeWeb News) – Three soon-to-be published studies suggest that a polymorphism in KIF6, a gene encoding a kinesin-like protein in the molecular motor family, increases the risk of coronary heart disease, Celera announced yesterday.
Celera subsidiary Berkeley HeartLab is developing a laboratory test, which it expects to launch in the coming months, for the gene variant.
According to the papers, which will appear in the Journal of the American College of Cardiology on January 29th, individuals with the Trp719Arg variant of KIF6 are at an increased risk — up to 55 percent higher — of coronary heart disease and myocardial infarction. Statin drugs such as pravastatin and atorvastatin reportedly counteract this risk.
“These studies indicate that carriers of the KIF6 gene variant are both at higher risk of coronary heart disease and this risk is reduced by statin therapy,” Brigham and Women’s Hospital cardiovascular researcher Frank Sacks, senior author on one of the trials, said in a statement. He added that such genetic studies “can assist physicians in making personalized cardiovascular treatment decisions for their patients.”
In the first of the studies, researchers used regression models adjusted for other known risk factors to investigate whether 35 previously identified genetic polymorphisms were associated with myocardial infarction or coronary heart disease, respectively, in two prospective, randomized clinical trials: the Cholesterol and Recurrent Events trial and the West of Scotland Coronary Prevention Study. They also assessed the effects of pravastatin treatment.
Based on their analysis of 2,700 patients in the CARE study and almost 1,600 patients in the WOSCOPS study, Celera scientist Olga Iakoubova and her colleagues reported that individuals with a Trp719Arg polymorphism had a 50 percent to 55 percent increased risk of myocardial infarction or coronary heart disease when they were given a placebo. Pravastatin treatment “substantially reduced that risk,” according to the researchers.
For a second study, researchers genotyped nearly 1,800 patients with acute coronary syndrome and compared the outcomes of statin treatment in Trp719Arg carriers. Their results suggest that those with the polymorphism benefit from more intensive statin therapy, whereas those without it can often get away with only moderate therapy.
Finally, for the third study, researchers followed more than 25,000 healthy Caucasian women who were 45 years old or older for 12 years. They report that the Trp719Arg carriers were 34 percent more likely to experience myocardial infarction and 24 percent more likely to have coronary heart disease in general.
The three studies come on the heels of Celera research, published by in Genetics in Medicine in October and in Arteriosclerosis, Thrombosis, and Vascular Biology earlier this year, linking KIF6 and other gene variants to coronary heart disease and myocardial infarction.
Now Celera is hoping to apply the studies to new molecular diagnostic tests. The company recently acquired Berkeley HeartLab, which is expected to offer lab tests for the suspicious KIF6 variant within the next several months.
“Berkeley HeartLab is validating a laboratory-developed test based on these research findings to identify individuals carrying the KIF6 gene variant,” Cleland Landolt, Berkeley HeartLab’s chief medical officer, said in a statement.
However, some experts are skeptical, saying the KIF6 results are too preliminary to be applied diagnostically and asking for independent validation of the Celera studies.

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