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.

Study Overview

• Status: Completed
• Conditions: Graves' Disease; Hashimoto's Disease

• Study Type: Observational
• Enrollment (Actual): 199

Contacts and Locations

Study Locations

• United States
  • Colorado
    • Aurora, Colorado, United States, 80045
      • University of Colorado Denver

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 7 years and older (ADULT, OLDER_ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients seen in Endocrinology Clinic

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

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

Study record dates

Study Major Dates

• Study Start: July 1, 2009
• Primary Completion (ACTUAL): February 1, 2013
• Study Completion (ACTUAL): May 1, 2015

Study Registration Dates

• First Submitted: August 11, 2009
• First Submitted That Met QC Criteria: August 12, 2009
• First Posted (ESTIMATE): August 13, 2009

Study Record Updates

• Last Update Posted (ESTIMATE): May 28, 2015
• Last Update Submitted That Met QC Criteria: May 26, 2015
• Last Verified: May 1, 2015

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Immune System Diseases; Autoimmune Diseases; Eye Diseases; Endocrine System Diseases; Exophthalmos; Orbital Diseases; Goiter; Hyperthyroidism; Thyroiditis, Autoimmune; Thyroiditis; Thyroid Diseases; Hashimoto Disease; Graves Disease
• Other Study ID Numbers: 08-0931