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Gene Mutations Leave Caucasians Prone To Heart Diseases And Diabetes

sk of a heart attack than people who carried no copies of the mutation. McPherson's team said 20 to 25 percent of Caucasians they tested carrying two mutated copies of 9q21 and had a 30 to 40 percent higher risk of coronary heart disease than people without the mutation. Half the people had one copy and they had a 15 percent to 20 percent higher risk of heart disease.

It was also observed that Africans did not appear to carry the mutations, and in African-Americans, the mutations were not associated with heart disease risk.

Significantly, the region was not found to be associated with inherited tendencies to have high cholesterol or high blood pressure.

Yet 9q21 is found near two genes called CDKN2A and CDKN2B, which four international teams of researchers last week reported they had identified in their own genome-wide association study looking for diabetes.

According to Collins, the coincidence is astonishing. "We are in the same place in the genome. Here is CDKN2B and 2A, their signal, exactly in the same place as where we found an association for type-2 diabetes," says Collins.

While diabetes raises the risk of heart disease, the heart disease researchers made sure that the patients they scanned did not have diabetes. Collins opines that researchers will now have to look for a mechanism that explains why a single stretch of DNA could cause both conditions.

In the meantime, deCODE plans to find practical uses for their discovery. "DeCODE plans to bundle this discovery with other genetic variants it has linked to risk of heart attack into a DNA-based test for gauging inherited risk of (heart attack)," the company was quoted.


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