Human Genetics

, Volume 123, Issue 2, pp 207–214 | Cite as

The Environmental Polymorphisms Registry: a DNA resource to study genetic susceptibility loci

  • Patricia C. Chulada
  • Heather L. Vahdat
  • Richard R. Sharp
  • Tracy C. DeLozier
  • Paul B. Watkins
  • Susan N. Pusek
  • Perry J. Blackshear
Original Investigation


The National Institute of Environmental Health Sciences is establishing a DNA repository named the Environmental Polymorphisms Registry (EPR). The goal is to recruit 20,000 subjects from the greater Research Triangle Park region of North Carolina and collect a sample of each subject’s DNA for genetic study. Personal information is obtained from each EPR subject and linked to their sample in coded form. Once individuals with the genotypes of interest are identified, their samples are decoded, and their names and contact information are given to scientists for follow-up studies in which genotype is important. “Recruit-by-genotype” resources such as the EPR require a transparent consent process and rigorous human subjects protection measures. Unlike the EPR, most US DNA resources are anonymous. Once scientists identify potentially significant genetic variants, they must screen new populations to find individuals with the variants of interest to study. The EPR eliminates this time consuming and expensive step. In designing the EPR, consideration was given to achieving high response rates, minimizing attrition and maximizing usefulness for future research studies. Subjects are recruited from outpatient clinics in area medical centers as well as from the general population to ascertain individuals in diverse states of health. Data are collected on race, ethnicity, gender and age, and are monitored for demographic diversity. As of November 2007, 7,788 individuals have been recruited into the EPR and their DNA samples have been used in numerous genetic studies. EPR subjects have also been solicited for several follow-up studies with high response rates (>90%). The success of the EPR based on the number of subjects recruited and genetic studies underway, suggests that it will be a model for future DNA resources.



The University of North Carolina General Clinical Research Center, one of the major enrollment sites for this study, is supported by a grant from the National Institutes of Health (grant RR000046).


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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Patricia C. Chulada
    • 1
  • Heather L. Vahdat
    • 2
  • Richard R. Sharp
    • 3
  • Tracy C. DeLozier
    • 4
  • Paul B. Watkins
    • 5
  • Susan N. Pusek
    • 5
  • Perry J. Blackshear
    • 1
  1. 1.Clinical Research ProgramNational Institute of Environmental Health SciencesResearch Triangle ParkUSA
  2. 2.Family Health InternationalResearch Triangle ParkUSA
  3. 3.Department of BioethicsCleveland ClinicClevelandUSA
  4. 4.Integrated Laboratory Systems, IncDurhamUSA
  5. 5.General Clinical Research Center, Rm. 3005 Clinical Research CenterUniversity of North Carolina HospitalsChapel HillUSA

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