Certain rare gene mutations can contribute significantly to low levels of a beneficial form of cholesterol in the blood, researchers have found. Low levels of this cholesterol, known as high-density lipoprotein (HDL), are a major risk factor for heart disease.
Gene mutations previously known to affect HDL levels had small effects individually, and it was thought many such mutations needed to accumulate before HDL levels were significantly reduced. The new finding, however, demonstrates that mutations in a few genes can be sufficient to affect blood cholesterol levels. According to the researchers, the strategy used in this study can be generalized to analyze the role of rare variations in candidate genes in other clinically important complex human traits.
Led by Howard Hughes Medical Institute investigator Helen H. Hobbs, who is at the University of Texas Southwestern Medical Center at Dallas, the researchers published their findings in the August 6, 2004, issue of the journal Science. Hobbs colleagues from the University of Texas Southwestern and the University of Ottawa Heart Institute were coauthors on the paper.
Jennifer Michalowski | EurekAlert!
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