Genotype and Phenotype Registry (GAP)
Email: PeterG@nshs.edu
The Genotype and Phenotype Registry (GAP) provides investigators with an easy and efficient means of recruiting control subjects for their research studies. The program enrolls healthy volunteers who provide a DNA sample, via a buccal wash (a spit sample) in addition to providing limited health history information. Volunteers should be willing to be contacted about participation in additional studies.
Collection of both DNA and health history allows for the selection of control subjects on the basis of genotype, as well as demographic information or medical history. To date, over 2200 participants have been enrolled, with a long term goal of 10,000 participants. Generally, enrollment is limited to people from the Long Island/ Metropolitan area to facilitate participation in future studies.
To access the GAP Registry’s pool of potential control subjects, an investigator must submit a research protocol first to the Committee for Participant Protection (COPP) and then to the Institutional Review Board (IRB). Protocols must stipulate the selection criteria for controls. Genotypic information used for selection must be approved by the COPP.
The ability to select subjects on the basis of common genotypic variation is an extremely powerful and efficient means of focusing expensive and time consuming phenotypic studies on control subjects who are most likely to be informative for understanding genotype-phenotype correlations. This is particularly true for the case where homozygosity for a particular genotype may be especially informative, since such homozygous individuals may be uncommon in the population. The study of such selected individuals allows for direct and efficient testing of hypotheses, without unnecessary phenotypic characterization of a large number of subjects who may not be informative for the particular hypothesis being tested.
In general, the genotypic information that is utilized for patient selection involves common polymorphisms that do not have a recognized clinical implication for the subject that would require genetic counseling. The genetic information is used only for studies that are based on populations and allow for the proper control for genotypic variation in the context of such studies. Subjects are therefore not provided with any personal genetic information.
Thanks to a $2.2 million federal grant, the GAP Registry is now expanding to become a national resource to scientists.
Examples of studies that have been implemented include:
- Selection of controls for basic immunological studies of in vitro T cell activation in subjects who carry, or do not carry, polymorphisms of the intracellular phosphatase, PTPN22.
- Recruitment of subjects with variations in COMT alleles (Val/Met polymorphisms); BDNF alleles; KIBRA; APOE (E2, E3, E4); and DNTBP1 in order to study cognitive phenotypes and normal aging.
- Recruitment of subjects with polymorphisms at the interferon regulatory factor 5 (IRF-5) rs2004640 allele, without SLE, to study the effects of these genetic variants on the response of interferon alpha production to Epstein Barr virus.
Contact
Name: Mary Keogh, ANP
Position: Research Coordinator
E-mail: mkeogh@nshs.edu
Publications of Interest
Nature Immunolgy. The habitual, diverse and surmountable obstacles to human immunology research
Adrian C Hayday & Mark Peakman
Nature Genetics. Closing the gap between genotype and phenotype
Peter K Gregersen
Immunity. A Prescription for Human Immunology
Mark M. Davis
To learn more about the research in genetics of autoimmunity, click here .