Public Release: 

DNA registry to study links among genetics, environment, disease

University of North Carolina Health Care

CHAPEL HILL -- Scientists at the University of North Carolina at Chapel Hill and the National Institute of Environmental Health Sciences (NIEHS) are developing a voluntary DNA registry to study the link among environmental exposures, genetic susceptibility and human disease.

Eventually to include 20,000 patients at various UNC medical facilities, the Environmental Polymorphism Registry will be unlike the many anonymous DNA repositories that have developed since the advent and recent completion of the human genome initiatives - in that patient identifiers will be maintained in coded form.

This innovation will allow scientists to contact registry participants at a later date for their permission to obtain additional information, to invite their participation in additional studies and to offer them the option to drop out of the registry. Currently, no similar resources are available to the National Institutes of Health or to researchers at UNC.

"This is a pioneering initiative," said Dr. Paul B. Watkins, professor of medicine and director of the university's Caviness General Clinical Research Center. "Clearly, this is the next step that's needed to increase our understanding of how genes interact with the environment, including the body's response to medicines."

The registry was initiated by Dr. Perry Blackshear, NIEHS director of clinical research, and Dr. Patricia Chulada, health science administrator at the institute in Research Triangle Park. Also collaborating with Watkins at UNC is Susan Pusek, General Clinical Research Center director of training and career development.

Data from follow-up studies will help scientists identify groups of individuals with genetic polymorphisms, or variants, in "environmentally sensitive" genes and possibly to correlate these genetic variants with clinical histories and current health status.

These genes control how the human body interacts with substances from the environment, encoding proteins that regulate a wide variety of cell functions such as the cell cycle, cell growth, proliferation and differentiation, cell death, DNA repair, hormone receptors, toxicant and drug metabolism, immune response and others.

"The data collected from these studies may be used to define environmental risk factors and develop preventive strategies to reduce the incidence of disease," Blackshear said.

A pilot study to assess the project's feasibility requested consent from roughly 600 people at UNC outpatient clinics. About 80 percent agreed to allow a portion of a blood sample drawn for other medical purposes to be used for DNA isolation and for placement in the registry depository for 25 years. The participants also consented to being contacted for further information and about enrollment in studies. Donated samples were coded to protect donor identity.

"We were very pleased to see the pilot study so well received," Watkins said. "The NIEHS and UNC are taking the national lead in this very important area."

The only requirement for participation in the registry is that donors be at least 18 years old. Registry recruitment will begin this month at UNC's Ambulatory Care Center in Chapel Hill. Other UNC-affiliated medical facilities may be added in 2004.


UNC School of Medicine

Note: Contact Watkins at 919-966-1435 or Contact Blackshear at 919-541-4899. Contact Pusek at 919-966-0128.

School of Medicine contact: Les Lang, 919-843-9687 or

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