The standard of care for people with risk factors for heart disease and high cholesterol is statin therapy. Since not everyone reacts well to medication or other treatment modalities, by looking at genetic variants we can better determine who is at risk and what the most effective treatment is.
Previous research has shown that a variant of the KIF6 (719arg variant) gene is associated with up to a 55% increased risk of primary and recurrent coronary heart disease events and that this increased risk is virtually eliminated with statin therapy. To date, the benefit of statin therapy for KIF6 carriers has only been studied with atorvastatin and pravastatin.

An overly simplified process of how disease develops is that small, dense particles of cholesterol get oxidized; the oxidized particles stick to artery walls and inflames them. An artery’s response to inflammation is the formation of plaque that narrows the artery. Plaque builds up and clots form on the plaques further narrowing the arteries. These plaques become unstable and rupture, resulting in complete blockage of arteries in your heart causing a myocardial infarction or blocking arteries in your brain causing a stroke. This process can happen anywhere in your body.

Data suggests that a specific variant of the KIF6 gene may play a role in the inflammatory process that can form unstable plaques which may rupture and block arteries. Once the artery is blocked, the lack of blood flow to the tissues causes death of those tissues and the extent of damage is dependent on the size of the area the artery feeds.

Knowing that you are at increased risk can guide therapy, as statins are not uniformly necessary or effective in all people. Inflammation can also be decreased with diet and supplements and other cardiovascular risk factors could be treated more aggressively.

Genetic testing is now simple and affordable. A simple cheek swab can determine if you have the KIF6 variant gene, as well as other genes that predict risk of cardiovascular disease. Knowing you risk can determine if you should do further testing to look at your other risk factors and extent of arterial blockage as well as to target therapy. Talk to your doctor to determine if this test is recommended for you.

One Comment

  1. Gale Glassner Twersky October 11, 2010 at 10:15 pm - Reply

    I am appreciative of your clear and insightful discussion of what has become a confusing subject. Also, feel it important to know there is an easy way to know if I have that gene. Many thanks.

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