Scientists associate 6 new genetic variants with heart disease r...(archers found that one of the six new SN...)

Date:1/13/2008

archers found that one of the six new SNPs altered the expression, or activity, of three nearby genes, suggesting that it somehow acts to regionally regulate them. Even more strikingly, that very same SNP was recently shown to be associated with coronary artery disease. Taken together, these findings provide a more complete picture of the path from genes to markers of heart disease like cholesterol to heart disease risk.

A primary goal of this kind of study is to learn more about human biology, which could in turn lead to new biochemical targets for therapy. But identifying SNPs is only the first step in the process. The new SNPs found by Kathiresan and his colleagues fall between the protein-coding portions of the genome, so their biological effects are not immediately clear. They may influence lipid levels by regulating the expression of nearby genes, but most of those genes have yet to be identified. That will require future laboratory work in cells or animals, in addition to continuing genetic studies in diverse human populations.

In the future, the researchers would also like to probe more deeply the DNA that surrounds the 18 genomic regions identified in the Nature Genetics study. These findings give us insight into the genetic architecture of quantitative traits like blood lipid levels, but we think that our findings may underestimate the impact of these regions, said Kathiresan. If we look closer, we may find even more SNPs nearby that contribute to cholesterol inheritance.

Another motive for this work is to eventually give physicians the ability to predict whether a patient will develop high cholesterol. Today, patients are often older and have had high cholesterol for several years before they are given a cholesterol-lowering drug. With a more complete knowledge of the genetic triggers, physicians may be able to identify high-risk patients at an earlier stage and use cholesterol-lowering drugs to prevent future damage to blood
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Contact: Leah Eisenstadt leah@broad.mit.edu 617-324-2619 Broad Institute of MIT and Harvard Source:Eurekalert

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