The Environmental Polymorphism Registry: A Unique Resource that Facilitates Translational Research of Environmental Disease

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 cl...

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Veröffentlicht in:Environmental health perspectives 2011-11, Vol.119 (11), p.1523-1527
Hauptverfasser: Chulada, Patricia C., Vainorius, Enrikas, Garantziotis, Stavros, Burch, Lauranell H., Blackshear, Perry J., Zeldin, Darryl C.
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container_end_page 1527
container_issue 11
container_start_page 1523
container_title Environmental health perspectives
container_volume 119
creator Chulada, Patricia C.
Vainorius, Enrikas
Garantziotis, Stavros
Burch, Lauranell H.
Blackshear, Perry J.
Zeldin, Darryl C.
description 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.
doi_str_mv 10.1289/ehp.1003348
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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. 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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. 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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.</abstract><cop>United States</cop><pub>National Institute of Environmental Health Sciences</pub><pmid>21659040</pmid><doi>10.1289/ehp.1003348</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record>
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subjects Adolescent
Adult
Aged
Commentaries
Disease susceptibility
DNA
DNA - genetics
Environmental disorders
Environmental Exposure - adverse effects
Environmental health
Environmental Monitoring - statistics & numerical data
Environmentally induced diseases
Epidemiological Monitoring
Ethnicity
Female
Follow up studies
Genetic loci
Genetic polymorphisms
Genetic Predisposition to Disease - epidemiology
Genetic research
Genotype
Genotypes
Humans
Male
Middle Aged
Natural resources
North Carolina - epidemiology
Phenotype
Polymorphism, Genetic
Registries
Research facilities
Translational Medical Research
title The Environmental Polymorphism Registry: A Unique Resource that Facilitates Translational Research of Environmental Disease
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