Autoimmune Thyroid Disease Genetic Study

This study has been completed.
Information provided by (Responsible Party):
University of Colorado, Denver Identifier:
First received: August 11, 2009
Last updated: May 26, 2015
Last verified: May 2015
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.

Hashimoto's Disease
Graves' Disease

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Autoimmune Thyroid Disease Genetic Study

Resource links provided by NLM:

Further study details as provided by University of Colorado, Denver:

Primary Outcome Measures:
  • Map and identify genes that confer susceptibility to Autoimmune Thyroid Disease (AITD) [ Time Frame: Approximately one year after all samples are collected ] [ Designated as safety issue: No ]
    SNP genotypes (allele frequencies, genotype frequencies) will be compared in cases versus controls.

Biospecimen Retention:   Samples With DNA

Enrollment: 199
Study Start Date: July 2009
Study Completion Date: May 2015
Primary Completion Date: February 2013 (Final data collection date for primary outcome measure)
Autoimmune Thyroid Disease
Patients with Hashimoto's disease or Graves' disease
Unaffected Population
Population not known to be affected by Hashimoto's Disease or Graves' Disease


Ages Eligible for Study:   7 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients seen in Endocrinology Clinic

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00958113

United States, Colorado
University of Colorado Denver
Aurora, Colorado, United States, 80045
Sponsors and Collaborators
University of Colorado, Denver
Principal Investigator: Richard Spritz, MD University of Colorado, Denver
  More Information

Responsible Party: University of Colorado, Denver Identifier: NCT00958113     History of Changes
Other Study ID Numbers: 08-0931 
Study First Received: August 11, 2009
Last Updated: May 26, 2015
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Graves Disease
Hashimoto Disease
Thyroid Diseases
Autoimmune Diseases
Endocrine System Diseases
Eye Diseases
Immune System Diseases
Orbital Diseases
Thyroiditis, Autoimmune processed this record on May 26, 2016