News | February 07, 2007

Long Sleuthing Uncovers Women’s Heart Disease Gene

Feb 9, 2007 — Research spanning three decades links a newly discovered gene variant in women to greater susceptibility to developing heart disease.

Scientists at Children's Hospital Oakland Research Institute (CHORI), the University of Iowa and Roche Molecular Systems are the first to identify the affected gene, called Leukotriene C4 Synthase (LTC4S). Its variant could be identified through a genetic test at birth, which would allow physicians to initiate preventative treatments to reduce or eliminate the risk of heart disease in those women possessing the variant gene.

The study will be published in the February issue of the American Heart Association journal Arteriosclerosis, Thrombosis, and Vascular Biology and was conducted by CHORI Scientists David Iovannisci, Ph.D. and Edward Lammer, M.D.

Dating back to 1971, the study began with 11,377 children in Muscatine, IA. Throughout the study, researchers periodically evaluated the participants' risks of developing heart disease starting in their teens and into their 40s. Their weight, height, blood pressure, cholesterol and other health factors and risks were recorded between 1971 and 1996. The women and men in the study were selected because they live in the City of Muscatine, IA, from which residents seldom move away, an ideal factor while conducting a multi-year study.

The identification and monitoring of study participants was led by Ronald Lauer, M.D., from the University of Iowa. Scientists at CHORI were responsible for genotyping DNA samples and drawing the study's conclusions. They hypothesized that inflammation was an important predictor for the development of heart disease. Inflammation is necessary to repair and heal nicks to the lining of blood vessels, which occur daily. The variant form of the LTC4S gene however, leads to an excessive inflammatory response at the site of blood vessel injury. As a result, people who inherit this gene variant don't repair damage to their blood vessels as well as others. Until now, the LTC4S gene variant was only known to cause asthma.

"This is the first direct evidence that a gene known to be linked to asthma is also tied to adult heart disease," said Edward Lammer, M.D., Geneticist at Children's Hospital Oakland Research Institute. "Our work is significant because we made allowances for other risk factors such as smoking, cholesterol and blood pressure levels. Consequently, we believe that the risk is genetic and not significantly influenced by a person's environment," said Dr. Lammer.

For further information visit www.childrenshospitaloakland.org/

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