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Autoimmune Thyroid Disease Genetic Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00958113
Recruitment Status : Completed
First Posted : August 13, 2009
Last Update Posted : May 28, 2015
Information provided by (Responsible Party):
University of Colorado, Denver

Brief Summary:
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.

Condition or disease
Hashimoto's Disease Graves' Disease

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Study Type : Observational
Actual Enrollment : 199 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Autoimmune Thyroid Disease Genetic Study
Study Start Date : July 2009
Actual Primary Completion Date : February 2013
Actual Study Completion Date : May 2015

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

Primary Outcome Measures :
  1. Map and identify genes that confer susceptibility to Autoimmune Thyroid Disease (AITD) [ Time Frame: Approximately one year after all samples are collected ]
    SNP genotypes (allele frequencies, genotype frequencies) will be compared in cases versus controls.

Biospecimen Retention:   Samples With DNA

Information from the National Library of Medicine

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Ages Eligible for Study:   7 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00958113

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United States, Colorado
University of Colorado Denver
Aurora, Colorado, United States, 80045
Sponsors and Collaborators
University of Colorado, Denver
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Principal Investigator: Richard Spritz, MD University of Colorado, Denver
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Responsible Party: University of Colorado, Denver Identifier: NCT00958113    
Other Study ID Numbers: 08-0931
First Posted: August 13, 2009    Key Record Dates
Last Update Posted: May 28, 2015
Last Verified: May 2015
Additional relevant MeSH terms:
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Graves Disease
Thyroid Diseases
Hashimoto Disease
Endocrine System Diseases
Orbital Diseases
Eye Diseases
Autoimmune Diseases
Immune System Diseases
Thyroiditis, Autoimmune