NIEHS and UNC to Collaborate on Registry of 20,000 Subjects to Relate Gene Variants and Environmental Disease

Scientists at the National Institute of Environmental Health Sciences in Research Triangle Park, N.C., one of the National Institutes of Health, and the University of North Carolina at Chapel Hill are collaborating on a registry that will eventually include 20,000 patients at various UNC medical facilities and will allow researchers to better study the relationship between environmental exposures, genetic susceptibility, and human disease.

The Environmental Polymorphism Registry was initiated by NIEHS Director of Clinical Research Perry Blackshear, M.D., D. Phil., and NIEHS Health Scientist Administrator Patricia Chulada, Ph.D., M.H.S. Their collaborators at UNC are Director of the General Clinical Research Center Paul Watkins, M.D., and Director of Training and Career Development Susan Pusek.

A pilot study launching the registry requested consent from 600 patients at UNC outpatient clinics. About 80 percent of those asked agreed to allow a portion of blood drawn for other medical purposes to be used for the isolation of DNA that was placed in the registry depository. The samples are coded to protect the identity of donors and then made available for researchers at the National Institutes of Health, including NIEHS, and UNC, and their collaborators, to screen for the presence of genetic variants, called polymorphisms (literally many forms), in a category of genes known as environmentally sensitive genes.

These genes control how our bodies handle substances from the environment, encoding proteins that regulate a wide variety of cell functions such as toxicant and drug metabolism, cell proliferation and differentiation, cell cycle, cell death, DNA repair, signal transduction, hormone receptors, immune and inflammatory responses, and others.

In recruiting volunteers for the registry, health status is not a requirement, whether a patient has a disease or condition or not. The only requirement is that the patient be 18 years of age or older to give consent.

Dr. Blackshear said that the registry will be unusual in that patient identifiers will be maintained in coded form, giving scientists the ability to re-contact participants at a later date for follow-up studies. There were no resources such as this available to NIH or UNC researchers prior to this, although there are many available anonymous DNA repositories, Dr. Blackshear said. Data from the follow-up studies will allow scientists to identify groups of individuals with genetic polymorphisms in environmentally sensitive genes and possibly to correlate their genetic variants with patients clinical histories and current health status.

The data collected from these studies may be used to define environmental risk factors and develop preventative strategies to reduce the incidence of disease, Dr. Blackshear said. This is a pioneering initiative, said Dr. Paul B. Watkins, professor of medicine and director of the General Clinical Research Center (GCRC) at UNC. Clearly, this is the next step thats needed to increase our understanding of how genes interact with the environment, including the bodys response to medicines.

Recruitment for the registry will begin soon at the Ambulatory Care Center at Mason Farm Road and S. Columbia Street in Chapel Hill, N.C. Other sites at UNC affiliated medical facilities may be added in 2004. Dr. Blackshear may be contacted on the registry, at (919) 541-4899.