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Genome Studies Point to Cholesterol-Regulating Genes
Date:8/4/2010

By Melissa Lee Phillips
HealthDay Reporter

WEDNESDAY, Aug. 4 (HealthDay News) -- Researchers have identified almost 100 genes in the human genome that may regulate cholesterol levels and the risk of coronary artery disease, according to a new study.

Reporting in the Aug. 5 issue of Nature, the authors suggest that studying these regions may illuminate the genetic basis of cholesterol levels in humans, but they caution that potential clinical applications are many years away.

"There's convincing evidence that at least some of these will be useful on a clinical level," said study co-author Dr. Sekar Kathiresan of Harvard Medical School, although exactly how most of them might regulate cholesterol metabolism remains an open question, he said.

Levels of two kinds of lipids -- cholesterol and triglycerides -- are known risk factors for heart disease, and about half of the variability in lipid levels is thought to result from genetic factors, said Kathiresan.

He and his colleagues measured lipid levels in more than 100,000 people and then scanned their genomes for genetic differences. They found 95 sites at which tiny differences in genetic sequence seemed to correlate consistently with differences in lipid levels. Together, an individual's genetic makeup at these 95 sites seems to explain about one-quarter of the genetic component of blood lipid levels, Kathiresan said.

Although the initial analysis was done in people of European descent, the researchers also performed their analyses on people of other ethnic backgrounds and found that most of the 95 regions appear to be important in individuals of African and Asian heritage as well.

About one-third of these sites were already known or suspected to be important for lipid metabolism; the other two-thirds had not been tied to lipid levels or coronary artery disease.

"We have now a long list of genes that are relevant in people, and we t
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