October 8th, 2010
04:29 PM ET

Study: No link between gene and heart problems

The more scientists find out about the intricacies of the human genome, the closer they get to a tantalizing prospect: personalized medicine.  It is the idea that one day our DNA will tell us which diseases pose the greatest risk to us and how to tailor therapies to curb that risk.

Earlier this year, a genetic variant called KIF6 seemed to be a step in the direction of personalized medicine for people at risk for coronary artery disease (CAD), a build-up of plaque in arteries that causes them to narrow.  Studies suggested that carriers of the gene were at increased risk for CAD.

As it turns out, they may not be.

A large, multi-center study spanning several countries, published in the Journal of the American College of Cardiology, refutes the connection between KIF6 and CAD.  Researchers studied a group of 17,000 carriers of the KIF6 variant and compared them with about 39,000 non-carriers. "None of the 19 studies demonstrated an increased risk of CAD in carriers... compared with non-carriers," according to the study.

"This study is so large and so powerful that it can test with excellent precision the question about this mutation, and what they found is that it's not important," said Dr. Donna Arnett, a professor and chair of epidemiology at the University of Alabama at Birmingham who was unaffiliated with the study. "This gene, when tested in a very large analysis with multiple populations, shows no increased risk for coronary artery disease."

While the study may be a small step backward in the realm of personalized medicine, the bigger concern raised in an editorial published alongside the study is "heavily-marketed" kits that test for the presence of KIF6, specifically a test called "Statincheck," manufactured by the Celera Corporation.  According to Celera, more than 230,000 "Statincheck" tests have been manufactured since 2008.

"So what went wrong? Why have... KIF6 genotypes been ordered in the past two years for a test that now seems to be useless?" was a question posed by editorial authors.  The editorial suggests that the few small studies establish a link between KIF6 and CAD were flawed, "plagued by false-positive results."

Celera Corporation released a statement about the editorial, saying it "contains numerous inaccuracies, misstatements and omissions" and "wrongly asserts that the prior KIF6 results 'stems primarily from a few observational studies.'"  According to Celera, "the KIF6 gene variant has been investigated in studies that included a total of approximately 55,000 people."

Still, Arnett considers the latest study about KIF6 and its relationship to CAD definitive:  "Clearly it's not associated with any increased risk."


soundoff (4 Responses)
  1. Mark

    I cant believe that to be possible- especially after all those years when they said it was linked – i think it just makes sense

    October 9, 2010 at 00:57 | Report abuse | Reply
    • Kathy

      Amazing...isn't it?

      October 9, 2010 at 07:24 | Report abuse |
  2. Peggy Bys

    Would like info. on the Brain Cancer vaccine therapy.

    Thank you.

    October 10, 2010 at 20:44 | Report abuse | Reply
  3. Dr. Stephen King

    Y'all rule! http://www.google.com

    October 11, 2010 at 12:00 | Report abuse | Reply

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Get a behind-the-scenes look at the latest stories from CNN Chief Medical Correspondent, Dr. Sanjay Gupta, Senior Medical Correspondent Elizabeth Cohen and the CNN Medical Unit producers. They'll share news and views on health and medical trends - info that will help you take better care of yourself and the people you love.