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Gene Mutations Leave Caucasians Prone To Heart Diseases And Diabetes

A study of genes by American scientists has revealed a startling find. Around 75 percent of whites or those of European descent have DNA that is linked to the risks of developing heart diseases. And thats not all. These genes lie close to another set that is connected with diabetes.

The findings, made by two independent groups of researchers, may help explain why so many people have heart disease even if they do not have clear risk factors such as smoking, high cholesterol or high blood pressure. They could also lead to a test to predict the risk of heart disease, the biggest cause of death across the globe.

Says Dr. Francis Collins, director of the National Human Genome Research Institute: "I think this is a stunner. "It seems like this one place carries all of that weight for two very common and very dangerous diseases."

In both studies a cutting edge technology for the search and discovery of disease causing genes, known as the genome-wide association study, was used. Since the landmark completion of mapping the human genome in 2003, scientists have been able to sniff out vital genes from virtually, millions of them. The two studies, using 40,000 people, found the same thing -a stretch of DNA called 9q21 carried certain mutations in people with heart disease. Scientists say that as it is an area that had not previously been identified as a gene, this may make it more difficult to determine how it causes disease.

While Dr. Ruth McPherson of the University of Ottawa Heart Institute and colleagues scanned blood samples from 23,000 people, Anna Helgadottir of Iceland-based deCODE Genetics Inc. in Reykjavik and U.S. colleagues at Emory University in Atlanta, the University of Pennsylvania and Duke University in North Carolina, tested 17,000 people.

The deCODE team found that about 21 percent of the people they tested had mutations in both copies of this DNA stretch, giving them a 64 percent higher ri 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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