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October 2001
Vol. 4, No. 10, p 15.
news in brief

Genes, women, and heart disease

heartOver the years, you have probably heard about behavorial risk factors for developing coronary artery disease (CAD). It is also widely known that inheritance can play a key role in its occurrence, and a number of genes have been associated with the condition. Now, researchers from several major U.S. medical centers have found a genetic polymorphism that may provide an important early detection signal in women for the development of atherosclerosis, the slow buildup of deposits in the arteries.

Darrell Ellsworth, of the National Institutes of Health, worked with Patricia Peyser and Lawrence Bielak, from the University of Michigan School of Public Health, and colleagues at the University of Texas at Houston and the Mayo Clinic to study the relationship between the amount of calcification in arteries, an important sign of atherosclerosis, and a mutation in the endothelial–leukocyte adhesion molecule 1 (E-selectin) gene, called S128R (J. Mol. Med. 2001, 79, 390–398).

The E-selectin gene plays an essential role in monitoring cell adhesion to the inner walls of the artery. The S128R mutation causes more white blood cells to stick to the walls, which may eventually increase the buildup of plaques.

The researchers studied a large group of men and women between ages 30 and 88 from the general population of Rochester, MN. Among women between 40 and 50, a significant relationship was found. 27% of those with the E-selectin polymorphism had coronary artery calcification (CAC), while only 6% without the mutation showed the disorder. In women over 50 and men of any age, no notable connections were observed between calcification and this mutation.

“Although other studies have seen similar findings in people who already have symptoms of severe coronary artery disease,” Ellsworth explains, “this study focused on people who did not have any symptoms.” Identifying this possible genetic risk factor may be useful in the future for screening women at an early age who do not show any other signs of the condition or any of the traditional risk factors, especially because CAD often goes unnoticed until people have a heart attack or die unexpectedly.

Further research is needed to see whether this polymorphism affects CAC in younger age groups and other racial groups and to determine what other related genetic variations are involved in the progression of CAC.

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