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Heart gene yields insights into evolution, disease risk

DURHAM, N.C. -- Analyzing the frequency among human populations of a variant in a gene that influences vulnerability to heart disease, biologists have found evidence that the gene has been influenced by the pressure of natural selection. What's more, this evolutionary pressure has influenced heart disease risk.

An analysis of data on the genetic variation among 2,400 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.

The researchers, led by Duke University Professor of Biology Gregory Wray, published their findings in the September 7, 2004, issue of the journal "Current Biology." Lead author of the paper was graduate student Matthew Rockman of Duke. Other co-authors were, Dagan Loisel of Duke, Matthew Hahn of the University of California at Davis and Nicole Soranzo and David Goldstein of University College London.

The researchers said their findings offer an intellectual model for a broader evolutionary study of genetics. This broader study would aim to bridge the gap between medical scientists' detailed molecular understanding of the genetic mutation underlying a disease and the evolutionary biologists' insights into how natural selection acted on the gene to propagate that mutation in the population.

Said Rockman, "Our research, and that of other evolutionary biologists, is directing us toward a new, more nuanced view of genetic variants which is that, in fact, variation is part of what it means to be human. And that this variation is not just harmful mutation but really a process that contributes to the health of populations."

Such studies, said Rockman, should include not just the segments of genes that code for the structure of proteins that make up the cell's machinery. They also should include the evolutionary processes that shape the gene segments that regulate a gene's activity.

Thus, in their study, Wra
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Contact: Dennis Meredith
dennis.meredith@duke.edu
919-681-8054
Duke University
6-Sep-2004


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