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Geneticists uncover heart disease gene.

Geneticists have discovered a gene they say could account for roughly half of all cases of the blood vessel-clogging disorder atherosclerosis, the major cause of heart attacks.

Patsy M. Nishina and Jurgen K. Naggert of the Jackson Laboratory in Bar Harbor report that a gene called atherosclerosis susceptibility, or ATHS, causes a set of characteristics that trebles an individual's risk of myocardial infarction. These characteristics include upper-body obesity, low concentrations of high-density lipoprotein (HDL) in the blood, high blood concentrations of fatty compounds, and a preponderance of the small, dense form of low-density lipoprotein (LDL) in the blood. Together they are called an atherogenic lipoprotein profile. An estimated 30 percent of the U.S. population has this profile.

Nishina and Naggert - together with researchers at the Children's Hospital Oakland (Calif.) Research Institute and the Lawrence Berkeley (Calif.) Laboratory - studied the incidence of the atherogenic lipoprotein profile among 72 members of 11 different families. By analyzing the pattern of how the profile passed down from generation to generation in these families, they determined it is caused by a single, dominant gene.

The researchers reported in the Jan. 15 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES that this inheritance pattern suggests that the ATHS gene lies on chromosome 19, near the gene for the LDL receptor. Body cells use this receptor to remove LDL cholesterol from the blood.

Beverly J. Paigen, the Jackson Laboratory scientist who directs Nishina and Naggert's research, says a genetic phenomenon called incomplete penetrance could account for the fact that myocardial infarctions strike mostly men and postmenopausal women. Sex hormones and diet probably also influence the effects of the gene, she adds.
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Title Annotation:atherosclerosis susceptibility, ATHS
Author:Ezzell, Carol
Publication:Science News
Article Type:Brief Article
Date:Aug 8, 1992
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