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.

Discussion: 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.

Conclusion: 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.

Figure 1

Demographics of the entire EPR population (A) and of the recontactable EPR population (B). Numbers beside bars represent percentage of the population. ^a37.5% female, 22.6% male, and 0.7% not reported. ^b14.2% female, 7.2% male, and 0.2% not reported. ^c40.8% female, 24.1% male, and 0.7% not reported. ^d13.4% female, 5.9% male, and 0.1% not reported.

Figure 2

Distribution of the recontactable EPR population in North Carolina by race (A), ethnicity (B), and sex (C). The size of each pie represents an estimate of the number of EPR subjects living in the region under the pie. Pie slices represent the proportions of subjects of different races (A), ethnicity (B), and sex (C). Abbreviations: AA, African American; AIAN, American Indian/Alaska Native; NHOPI, Native Hawaiian/other Pacific Islander; NR, not reported.