AREDS Frequently Asked Questions
Overview and Phenotype Information
Privacy and Investigator and AREDS Participant Rights
Overview and Phenotype Information
The NEI-AREDS Genetic Repository is a collection of genetic material submitted by participants in the Age-Related Eye Disease Study (AREDS) which was sponsored by the National Eye Institute (NEI). The Repository stores DNA for use by investigators conducting genetics research into the causes of eye disease.
During a pilot examination of participants from one AREDS Clinical Center with 2 different specimens drawn, it was found in some cases that the two samples presumed to be from the same participant did not match. To ensure that this labeling error was not more widespread, a second blood sample was obtained from most participants and the DNA fingerprint from both blood samples was compared. A matching status of ‘Matched’ means that this participant had 2 or more different blood specimens whose DNA fingerprints matched. Of the participants with multiple specimens whose DNA fingerprints were compared, 2.9% had specimens that did not match. Specimens that were DNA fingerprinted that did not match were destroyed.
A matching status of 'Untested' means either 1) no second sample was obtained for this participant so the matching status could not be tested (the majority of cases), or 2) a second sample was obtained for this participant but DNA was not obtained for fingerprinting, however other genetic material (such as a cell line) is available that could be used to obtain DNA in the future which could then be tested. This means that in some rare cases a participant has both ‘Matched’ and ‘Untested’ specimens. Based on the DNA fingerprinting results described above, it is estimated that 2.9% of ‘Untested’ specimens have a labeling error such that the AREDS ID of the genetic specimen has been linked to the phenotypic data from a different AREDS participant.
A detailed description of how the final AMD phenotype categories were defined is found here.
A detailed description of how the cataract phenotype was defined is found in the following article:
Yes. Additional phenotypic information for AREDS participants is available here in the database of Genotype and Phenotype (dbGaP) through the National Center for Biotechnology Information (NCBI). To apply for access to these data, go here.
The 'ID2' referred to in the AREDS Repository dataset is the subject ID that was submitted to the dbGaP when the data were provided to them by the NEI. However, the NCBI refers to this ID as the ‘Submitter Subject ID’ in the dbGaP datasets. After receiving the data from the NEI, the NCBI assigned its own internal subject ID to each participant which they refer to as the ‘dbGaP Subject ID’; this allows data from the same participant in different studies in the dbGaP to be linked together.
600 AREDS participants were selected to be genotyped by the Center for Inherited Disease Research (CIDR) using the Illumina 100K and the Affymetrix 100K gene chips. Some specimens were successfully genotyped with both gene chips, some with only the Illumina gene chip, some with only the Affymetrix gene chip, and some with neither gene chip. These gene chip data are available in the dbGaP. Note that while only one specimen from a participant was genotyped, all specimens from that participant have the same participant chip status. This is due to the fact that the genotypes would be the same for specimens from the same participant. Also note that participant chip status only refers to the 100K gene chip results for these 600 AREDS participants, not to any other gene chip results submitted by other researchers using AREDS DNA.
Some participants only consented to have their genetic specimen used for eye disease research. This means that samples from those participants should only be used for eye disease research. Specimens from participants who consented to General Research Use can be used for any type of scientific research.
Only one specimen ID per participant is shown in the catalog. However, an Excel spreadsheet that lists all the specimens for every participant is available via a link at the top of the AREDS DNA page of the catalog. To find other specimens from the same participant, search for records where the participant ID (called 'ID2') is the same.
There are two possibilities:
You may order 1 tube of DNA from the same specimen or participant per order.
Privacy and Investigator and AREDS Participant Rights
The NEI-AREDS Genetic Repository is a collection of genetic material submitted by participants in the Age-Related Eye Disease Study (AREDS) which was sponsored by the National Eye Institute (NEI). The Repository stores DNA for use by investigators conducting genetics research into the causes of eye disease. Identifiable information is not used or retained by Coriell Repositories for any samples distributed. Some participant identification, such as age, gender, and race, will be made available to the Repository and researchers; however, these data will not be traceable to any individuals and will be HIPAA compliant.
The Privacy Rule is a federal regulation under the Health Insurance Portability and Accountability Act (HIPAA) of 1996 that governs the protection of individually identifiable health information. The Repository does not accept or store any personally identifying information on samples, and therefore, investigators ordering samples are HIPAA compliant during repository usage. Note that Coriell and the NEI-AREDS Repository are not covered entities, and therefore, are not subject to HIPAA regulations.
A Certificate of Confidentiality protecting the identity of research subjects has been issued by the National Institutes of Health to the Repository to protect the privacy of research participants by withholding their identities from all persons not connected with this research.
Matthew W. Mitchell, Ph.D. - Principal Investigator
email: mmitchell@coriell.org
phone: 856-412-6999
Emily Y. Chew, M.D. - Senior Investigator
NEI, NIH
Abby Amberson - Project Manager
Email: aamberson@coriell.org
Phone: 856-966-5062
Thomas Cutts - Project Manager
Email: tcutts@coriell.org
Phone: 856-757-3805
