Environmental Polymorphisms Registry

Conditions:Asthma, Asthma, Peripheral Vascular Disease, Cardiology
Therapuetic Areas:Cardiology / Vascular Diseases, Pulmonary / Respiratory Diseases
Age Range:8 - 127
Start Date:November 24, 2003
Contact:Polly Armsby
Phone:(800) 860-3804

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Environmental Polymorphism Registry (EPR)

This study conducted by the NIEHS and the University of North Carolina Medical Center will
create and maintain a biorespository containing the genetic material (DNA) from up to 20,000
individuals recruited from North Carolina. These samples will allow scientists to look for
differences in each individual s DNA. These differences are not known to be associated with
any condition or disease to date, but the purpose of the study is test these differences for
possible susceptibility to (or protection to) common conditions such as asthma,
cardiovascular disease, cancer and many others. Many of the differences to be studied are in
environmental response genes. These genes determine the various ways humans respond to toxic
substances in the environment, their diet and lifestyles (e.g. no exercise vs. exercise), and
exposures to other substances, e.g. therapeutics.

Participants will be recruited from the general NC population through health fairs, studies
drives at community venues and corporations, and from out patient clinics within the
University of North Carolina health care system. Participants can also visit one of two
locations in the Research Triangle area to volunteer for this study. All participants will be
asked to provide a blood sample and some basic information on their gender, race and
ethnicity, and will be compensated for their time by receiving $20.

DNA will be extracted from the blood, encrypted with a secret identification number, and
placed in the registry's biorepository. The registry will exist for up to 25 years. During
that time, the DNAs will be available to researchers to look for the differences in the DNAs
as described above. Participants who have certain differences might be asked to participate
in a future study of people with the same DNA differences. The future studies will most
likely involve filling out a questionnaire or participating in a telephone survey, but may
involve being interviewed or having a physical examination or laboratory evaluation,
including blood tests. Participants will be asked to update their contact information once a
year for up to 25 years.

We are establishing a registry-based cohort and repository of biological (e.g. blood,
urine,saliva, etc.) and environmental (e.g. household dust) specimens (approximately 20,000
participants) in which the donated specimens are linked to the donor s identities, contact
information, and some basic demographics through a personal identification number (PIN).
Specimens are available to investigators in coded form to anonymously screen for the presence
of single-nucleotide polymorphisms (SNPs) and other mutations in DNA, by using standard
genotyping methods as well as whole genome sequencing (WGS) or whole exome sequencing (WES),
and differences in hormones, dietary factors, and/or chemicals or toxins in the blood or
urine. Once participants with the genotypes of interest have been identified, investigators
can apply for re-identification of the specimens and ask the same participants to participate
in follow-up phenotyping studies in a process known as phenotype-by-genotype. Participants
may also be selected to participate in follow-up studies based upon differences in other
biological (e.g. urine, saliva, etc.) or environmental (e.g. household dust) specimens,
exposure or disease states of interest through assessment of family history of disease,
occupational, socioeconomic status, and lifestyle data collected by various health and
exposure surveys. As surveys are implemented, data from these surveys will be used to
identify participants for participation in follow-up studies based upon genotype, exposure,
and disease states.

To investigate the feasibility of establishing this cohort, named the Environmental
Polymorphisms Registry (EPR), we conducted a pilot study (Environmental Polymorphisms Study
or EPS) at two University of North Carolina (UNC) Healthcare clinics, (February-August 2001).
The EPS assessed the willingness of outpatients to participate in a genetic study of this
sort and identified potential problems that might arise when enrolling a much larger 20,000-
participant registry (EPR). Recruitment rates were high, with 77% of patients approached
enrolling in the registry. Based on these results, we decided to proceed with recruitment for
the EPR. EPS participants and their specimens were incorporated into the larger EPR and the
EPS and EPR protocols were merged into this one protocol.

EPR participants are recruited from and enrolled at the NIEHS Clinical Research Unit (CRU),
National Institutes of Health (NIH) Clinical Center, various healthcare clinics, and from the
general public. The latter includes university campuses, health fairs, study drives held at
various locations (e.g., corporations, community centers, community events, etc.) and the EPR
website. Participants are asked to donate blood for DNA isolation and archiving. Participants
may also be asked to donate other biological and environmental specimens for researchers to
investigate whether there are significant changes in their genetic material, hormones,
dietary factors, and/or chemicals or toxins in their blood or urine. Consent is administered
during which participants are told that their specimens will be used for genetic and
biochemical screening projects, we will contact them annually to update contact information,
and they may be recontacted to participate in voluntary follow-up studies or donate
additional specimens. EPR participants may also be given the opportunity to complete the EPR
Health and Exposure Survey, in order to collect health, family history of disease,
environmental exposure, socioeconomic status, and lifestyledata. Information collected in the
survey will be used to better characterize the EPR population, making it more useful in
answering research questions related to gene environment interactions. Participants may be
contacted to participate in follow-up studies based upon the data collected by the survey.


- 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.

There are no other inclusion or exclusion criteria.
We found this trial at
Raleigh, North Carolina 27607
Raleigh, NC
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9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, MD
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Chapel Hill, North Carolina 27599
(919) 962-2211
Univ of North Carolina Carolina’s vibrant people and programs attest to the University’s long-standing place...
Chapel Hill, NC
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Research Triangle Park, North Carolina
Phone: 919-541-0985
Research Triangle Park, NC
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