Project: Research project

Project Details


DESCRIPTION (taken from the application)
In the past 2 years we have conducted a multi-phase set of studies aimed at
mapping the susceptibility loci for autoimmune thyroid disease (AITD). These
studies are supported by a K08 award given to the applicant (DK 02498-03). The
applicant is proposing to expand these studies, and for that purpose he is
applying for an R03 award to run concurrently with his K08 award during the
last 2 years of the K08 award (PAR-98-087). In the first phase we have
assembled a dataset of 56 multiplex families (354 individuals) and screened
them for 14 candidate genes and 5 chromosomal regions which may be linked with
AITD. Using this approach, we have identified 5 new loci which showed evidence
of linkage with AITD. We are now ready to move to the next phase of the study
which is the confirmation of the already identified loci in an independent
dataset of families. The specific aims of this proposed study are:
1) To assemble a confirmatory dataset of 50 AITD families, similar to the
current dataset; 2) To confirm the loci identified using the first dataset by
linkage studies on the confirmatory dataset; 3) To analyze additional candidate
genes on both datasets. The confirmation of linkage to some or all of these
loci will then enable us to continue to the next phase of the project which is
identifying the genes. We have the capability to enroll in a relatively short
period of time a confirmatory set of families. We have designed a protocol for
family identification and enrollment. We have created a repository for storage
of blood and DNA samples from study subjects, and we have developed a database
to store all the information and analyze it. Microsatellite marker analysis
will be performed using two ABI-310 automated sequencers. The requested R03
supplement to our K08 award will be used solely for salary support for a
research nurse coordinator that will speed up enrolling the confirmatory
dataset. Once the new dataset is assembled, we will be able to test the loci we
have identified and confirm or reject them. In addition the combined dataset of
more than 100 families will enable us to perform association studies using TDT
analysis. The TDT association analysis will be used to fine map the AITD
susceptibility loci. These analyses will begin to map the genes contributing to
the expression of AITD, and hopefully will allow better understanding of the
mechanisms initiating these diseases. Thus, treatment modalities could be
designed based on the mechanisms initiating the diseases.
Effective start/end date9/1/008/31/03


  • Genetics
  • Immunology


Explore the research topics touched on by this project. These labels are generated based on the underlying awards/grants. Together they form a unique fingerprint.