Autoimmune Thyroid Disease Genetic Study

• ClinicalTrials.gov Identifier: NCT00958113
• Recruitment Status: Completed
• First Posted: August 13, 2009
• Last Update Posted: May 28, 2015
• Sponsor: University of Colorado, Denver
• Information provided by (Responsible Party): University of Colorado, Denver

Study Description

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

Study Design

• 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

Groups and Cohorts

Group/Cohort
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

Outcome Measures

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

Saliva

Eligibility Criteria

• 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

Criteria

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

Locations

United States, Colorado

University of Colorado Denver

Aurora, Colorado, United States, 80045

Sponsors and Collaborators

University of Colorado, Denver

Investigators

• Principal Investigator: Richard Spritz, MD; University of Colorado, Denver

More Information

• Responsible Party: University of Colorado, Denver
• ClinicalTrials.gov Identifier: NCT00958113
• Other Study ID Numbers: 08-0931
• First Posted: August 13, 2009
• Last Update Posted: May 28, 2015
• Last Verified: May 2015

Additional relevant MeSH terms:

Graves Disease; Thyroid Diseases; Hashimoto Disease; Endocrine System Diseases; Exophthalmos; Orbital Diseases; Eye Diseases; Goiter; Hyperthyroidism; Autoimmune Diseases; Immune System Diseases; Thyroiditis, Autoimmune; Thyroiditis