Region of DNA Tied to Heart Disease Susceptibility

In the May 3 issue of Science Express, an international research team - including scientists from two University of Texas health institutions - announced the discovery of a tiny stretch of DNA on chromosome 9 that increases individual susceptibility to heart disease by 30 to 40 percent, regardless of other established risk factors.

"We identified a region of the genome that is a significant predictor of heart disease," said Eric Boerwinkle, Ph.D., one of the study's co-authors and director of the Research Center for Human Genetics at UT's Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases (IMM). "I've been doing this my entire adult life and I've never seen a gene with this large an effect on heart disease. This is the largest contribution of any gene variants ever reported for heart disease."

Noted cardiologist James T. Willerson, M.D., president of The University of Texas Health Science Center at Houston, said, "These findings are very important and should lead to the ability to predict heart disease risk in more precise ways in the future."

Early Preventive Therapies

The findings could help geneticists identify people at risk of heart disease, enabling early preventive therapies, including lifestyle changes and medications to reduce risk, said Boerwinkle, who also is director of the Human Genetics Center at the UT School of Public Health and holder of the Kozmetsky Family Chair in Human Genetics. The research also could lead to a better understanding of the biological pathways that lead to heart attack.

The study involved a research technique called genome-wide association scanning. Results were based on samples from more than 23,000 people in the United States, Canada and Denmark.

Using a map of genetic variants, researchers linked two variants, also known as single nucleotide polymorphisms (SNPs), to heart disease. They were found on chromosome 9.

Consistent Association

"The SNPs were consistently associated with early onset heart attack, unrelated to many of the traditional risk factors for heart disease, including diabetes and high blood pressure," Boerwinkle said.

To locate the variants responsible for coronary heart disease, researchers compared the SNPs in heart patients to the SNPs in healthy people, he said.

The study was led by Ruth McPherson, M.D., Ph.D., an endocrinologist at Canada's University of Ottawa Heart Institute (UOHI), in collaboration with Jonathan C. Cohen, Ph.D., at the UT Southwestern Medical School at Dallas. McPherson is lead author on the study, which will be published in an upcoming issue of the journal Science.

Other co-authors of the study are from the University of Ottawa Heart Institute, UT Southwestern Medical Center, Lawrence Berkeley National Laboratory, University of Minnesota, Perlegen Sciences and Copenhagen University Hospital.

By Rob Cahill, Institutional Advancement

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