title: The Environmental Polymorphism Registry: a unique resource that facilitates translational research of environmental disease.
abstract: BACKGROUND
  Dissecting complex disease has become more feasible because of the availability of large-scale DNA resources and advances in high-throughput genomic technology. Although these tools help scientists identify potential susceptibility loci, subjects with relevant genotypes are needed for clinical phenotyping and toxicity studies.
  
  
  OBJECTIVE
  We have developed a resource of subjects and their DNA to use for translational research of environmental disease.
  
  
  METHODS
  More than 15,000 individuals of diverse sex, age, race, and ethnicity were recruited from North Carolina. DNA was isolated from their blood and coded with personal identification numbers linked to their identities. This linked resource of subjects and their DNA-the Environmental Polymorphism Registry (EPR)-allows scientists to screen for individuals with genotypes of interest and invite them to participate in follow-up studies.
  
  
  CONCLUSIONS
  The EPR is a phenotype-by-genotype resource designed to facilitate translational studies of environmental disease. Based on their genotypes, subjects are invited to participate at all levels of research, from basic laboratory ex vivo cell phenotyping experiments that require viable tissue to in vivo observational studies and clinical trials. Here we report on progress of the EPR since 2008. We also describe a major effort at the National Institute of Environmental Health Sciences (NIEHS) to investigate susceptibility loci in 87 environmental response genes and gene × environment interactions using EPR resources.
  
  
  CONCLUSIONS
  The EPR is a unique and novel resource and is ideal for genotype-driven translational research of environmental disease. We expect that it will serve as a model for future resources. Such tools help scientists attain their ultimate goals: to identify at-risk populations and develop strategies for preventing and treating human disease.
authors.affiliation: Clinical Research Program, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, North Carolina, USA.
authors.forename: Patricia C
authors.initials: PC
authors.lastname: Chulada
authors.forename: Enrikas
authors.initials: E
authors.lastname: Vainorius
authors.forename: Stavros
authors.initials: S
authors.lastname: Garantziotis
authors.forename: Lauranell H
authors.initials: LH
authors.lastname: Burch
authors.forename: Perry J
authors.initials: PJ
authors.lastname: Blackshear
authors.forename: Darryl C
authors.initials: DC
authors.lastname: Zeldin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004247:DNA / Q000235:genetics*; D004781:Environmental Exposure / Q000009:adverse effects*; D004784:Environmental Monitoring / Q000706:statistics & numerical data*; D062665:Epidemiological Monitoring; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009657:North Carolina / Q000453:epidemiology; D010641:Phenotype; D011110:Polymorphism, Genetic; D012042:Registries; D057170:Translational Research, Biomedical
chemical_list: D004247:DNA