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Statins, Heart Attack, and Genes

The age of personalized medicine is a step closer. One recent study on statins shows how they improve health, another identifies people at risk for side effects.

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Harvard Medical School researchers set hearts atwitter at the annual American Heart Association meeting in New Orleans last weekend when they announced a major study verifying the health benefits of taking cholesterol-lowering statins even for people with normal levels of cholesterol.

In the study, published in the New England Journal of Medicine, almost 18,000 men and women were given either a statin or a placebo and then followed for nearly two years in a study called Jupiter—Justification for the Use of Statins in Prevention: An International Trial Evaluating Rosuvastatin. (The trade name for rosuvastatin is Crestor, made under license in the U.S. by AstraZeneca.)

Impressively, the statin-popping group was 44 percent less likely to have a heart attack than the placebo group, and 21 percent less likely to die from heart disease. The test was so successful that an independent review board cut short the five-year trial after just two years.

Jupiter was headline news around the world, though there was a piece of the statin story that was missing.

This comes from a second major study published last August, also in the New England Journal of Medicine, that indicates about one in six of all Caucasians carry a genetic variation that could make taking statins risky by increasing the chances of cardiomyopathy. (Asians and Africans have a slightly less risk.)

A potentially dangerous inflammation of the heart muscle, cardiomyopathy is a well-known, but rare potential side effect of statins.

Juxtaposing these two studies provides a glimpse into the future of personalized medicine, when major public health pronouncements like Jupiter will be presented with modifications for subgroups of people according to their genetic profile.

In this case, the genetic study suggests that about 2 percent of those tested have a variation (designated by the genetic letters "CC") that carries a risk nearly 17 times that of people who have the normal variation—an extremely high risk factor for a genetic marker associated with a common disease.

A second variation (designated by "CT") gives a carrier a nearly five-fold higher risk than normal. I carry this CT gene mutation—which is much better than the CC, but is still a higher-than-normal risk.

Both the CC and the CT mutations occur in a gene called SLCO1B1, which helps regulate the uptake of statins and certain other drugs into the liver. People who carry mutations end up with higher-than-normal concentrations of statins in their blood, which can contribute to the onset of cardiomyopathy.

In previous columns, I have described a slew of tests I'm taking for a book called Experimental Man—including a wide range of genetic screens and more traditional tests measuring everything from cholesterol levels to CT scans of my heart and other organs.

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