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Evolutionary pressure on heart gene leads to heart disease risk
Asian News International
Washington, September 13

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A new study conducted by researchers at Duke University suggests that the gene that influences vulnerability to heart disease has been influenced by the pressure of natural selection that in turn has influenced heart disease risk.

The researchers, led by Gregory Wray and Matthew Rockman explored the evolutionary history of one particular variant in a gene called MMP3.

MMP3 protein is an enzyme that plays a role in regulating the elasticity and thickness of blood vessels and the variant they studied tends to retard the progress of coronary artery heart disease.

They first compared the structure of the gene region among non-human primates -- including the chimpanzee, gorilla, orangutan and baboon. It revealed that that the region of the gene is rapidly evolving and had been a "hotspot" of mutation for tens of millions of years.

Then they compared the variation in the regulatory region of the MMP3 gene among seven populations from around the world --Cameroon, China, England, Ethiopia, India, Southern Italy and Papua New Guinea.

The pattern of variation was compared with the random genetic variation taking place in a group of neutral genetic markers which revealed that the variation in the gene among populations could be attributed to evolutionary positive selection.

The analyses of data on the genetic variation among the sample of British middle-aged men indicated that the men would have suffered 43 percent more heart attacks had the positive selection for the gene variant not occurred.

"We really don't know why this selection occurred, because this gene is involved in so many different processes. Because heart disease is a relatively recent disease, it's more likely that the selection was for some other function of MMP3, and the heart disease effect was incidental," Rockman said.

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