NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

Personalized Environment and Genes Study

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

04-E-0053

Sponsoring Institute

National Institute of Environmental Health Sciences (NIEHS)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 7 Years
Max Age: 130 Years

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Genotype;
Phenotype;
Environmental Factor;
Single Nucleotide Polymorphism

Recruitment Keyword(s)

None

Condition(s)

Diabetes;
Heart Disease;
Asthma

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Environmental Health Sciences

PEGS BackgroundPEGS Phenotype-by-Genotype Beginnings

The Personalized Environment and Genes Study (PEGS) aims to provide a resource for environmental health translational research by examining gene-environment interactions in health and disease. The PEGS started in 2005 as a phenotype-by-genotype registry of participants who had donated DNA samples, and who had agreed to be contacted for follow-up clinical translational studies based on their DNA genotypes. At the time, the only information available was a participant s age, sex, race, and ethnicity. Further phenotyping of a participant and/or any biospecimens obtained were investigated during a follow-up translational clinical study on participants recruited based on their genotype (hence phenotype-by-genotype) and the PEGS was the first recruit-by- genotype study at the NIH.1Following a period focused on recruiting approximately 15,000 participants to enable genotyping of rare (approximately 1% minor allele frequency) single nucleotide polymorphisms (SNPs), the PEGS Consortium Project was undertaken in 2010- 2011 to examine, using the DNA of nearly 4,000 participants ( the PEGS 4000 ), approximately 700 SNPs in approximately 80 environmental response genes that work in concert with environmental exposures to elicit a phenotype.2Several clinical follow-up studies, genotype-phenotype association studies, and publications have resulted from the PEGS Consortium Project.

PEGS Recruiting by Genotype, Phenotype, and/or Exposure

To expand phenotype information available to researchers, between 2013-2014, the PEGS Health and Exposure Questionnaire was administered and has had responses from approximately 9,000 participants. This has proven to be a great resource for genotype-phenotype association studies and the protocol was amended to allow disease and exposure specific recruitment.

PEGS Aims

The goal of the PEGS is to provide a resource for environmental health translational research by examining gene-environment interactions in health and disease by the following three aims:

Incorporate information of individuals for environmental health translational research through multiple data sources through a personalized/precision medicine based approach

Extend the PEGS as a resource to both intramural and extramural investigators through collaborations and providing accessible databases

Engage as a longitudinal study taking advantage of cross-sectional information already obtained

PEGS Aim 1: PEGS as a Personalized/Precision Medicine Based ResourcePEGS Population-based Resource Beginnings

The PEGS started out as a population-based resource where investigators could access participants based on genotypes for further clinical/translational studies. The idea of using the cohort for population-based studies fully emerged after approximately 9,000 participants provided phenotype and some exposure data between 2013-2014. Genotype-phenotype association studies began in earnest at that time through the NIEHS PEGS Laboratory and the ability of enabling studies of larger population groups within the PEGS began to emerge. A second population-based questionnaire was given to participants in early 2017 to study the external and internal exposomes . After the initial web-based only effort, approximately 3,000 participants have completed the two-part survey. Plans have also started to take advantage of the prospective nature of the PEGS and the advantages of a longitudinal study over a cross- sectional one in studying gene-environment interactions (see PEGS Aim 3: PEGS as a Longitudinal Study below). However, the interest of most investigators has focused on sub- groups of the PEGS based on questionnaire answers such as asthmatics, those with Crohn s and other auto-immune diseases, smokers, black cohosh users, etc. A major utility of the PEGS has also been its ability to provide control participants for study groups of interest. For example, several groups have undertaken projects to genotype participants DNA for polymorphisms in genes that when placed in transgenic mice have given phenotypes (such as diabetes) with an interest in finding a milder phenotype (such as insulin resistance) in participants with the polymorphism. In addition, investigators prefer participants who are able to come in to the NIEHS Clinical Research Unit and the focus in recruitment for these studies is often on PEGS participants who live within 100 miles of Research Triangle Park, NC. Hence there are limitations for the PEGS as a strictly population-based cohort for studies, and a great interest in specific groups of patients which can augment an investigator s need for specific groups of patients based on an individual s genotype, phenotype, and external and internal exposome/exposures to pursue the investigator-driven environmental health translational research.

Personalized/Precision Med...

--Back to Top--

Eligibility

INCLUSION AND EXCLUSION CRITERIA:

-Non-Pregnant adults (greater than or equal to 18 years of age) or minors (ages 8-17 years old) are eligible to enroll in the Environmental Polymorphisms Registry.

-Participants must be able to understand and provide written informed consent (adult participants or parent/ guardian of minors) and assent (minors) to participate.

-Women who self-report that they are currently pregnant will be excluded from eligibility. A pregnancy test will only be done if the PI feels it is indicated.

There are no other inclusion or exclusion criteria.


--Back to Top--

Citations:

Not Provided

--Back to Top--

Contacts:

Principal Investigator

Referral Contact

For more information:

Janet E. Hall, M.D.
National Institute of Environmental Health Sciences (NIEHS)
BG 101 RM A222
111 T W ALEXANDER DR
RESEARCH TRIANGLE PRK NC 27709
(984) 287-3647
janet.hall@nih.gov

Jamie R. Glover
National Institute of Environmental Health Sciences (NIEHS)
SOCIAL AND SCIENTIFIC SYSTEMS
4505 EMPEROR BLVD STE 400
DURHAM NC 27703
(800) 860-3804
niehs-pegs-info@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00341237

--Back to Top--