Autoimmune Thyroid Disease Genetic Study
Autoimmune Thyroid Disease Genetic Study
The hypothesis of this project is that specific genes can be identified that contribute to
 genetic susceptibility to autoimmune thyroid disease (AITD) in different populations. The
 specific aim of this project is carry out one or more genomewide association studies (GWAS)
 to map and ultimately identify genes that confer susceptibility to AITD. AITD consists
 principally of Hashimoto's Thyroiditis (HT) and Graves' Disease (GD), characterized
 clinically generally by hypothyroidism and hyperthyroidism, respectively. Both HT and GD are
 autoimmune diseases characterized by infiltration of the thyroid by T and B cells that are
 reactive with thyroid antigens and by the production of thyroid autoantibodies (TAB). While
 there is some evidence that there may be genes specific to either GD or HT, other genes
 appear to be common to both, and some genes may furthermore be in common to susceptibility to
 other autoimmune diseases. Genes known to play a role in AITD include HLA, CTLA4,
 thyroglobulin (TG), THSR, and CD40, PTPN2, and PTPN22, several of which are also involved in
 susceptibility to other autoimmune diseases. All of these genes interact in a complex manner
 that has yet to be understood. Furthermore, it seems clear that relatively few of the genes
 involved in susceptibility to AITD have thus far been discovered.
Inclusion Criteria:

 -  Clinical diagnosis of abnormal thyroid function (hypo or hyperthyroidism) due to
 autoimmune thyroid disease

 Exclusion Criteria:

 -  Lack of documentation of abnormal thyroid function or clear evidence of autoimmune
 etiology