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Updated: May 10, 2025

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
Published on: March 17, 2023
Familial Risk of Hashimoto's Thyroiditis in a Large Genealogical Database.
Melissa Bujnis1, Kelsey DeSalvo2, Deborah W Neklason3
1Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.
First-degree relatives of individuals with Hashimoto's thyroiditis (HT) have a significantly increased risk, with even second- and third-degree relatives showing a notable familial risk for this autoimmune thyroid disorder.
Area of Science:
- Endocrinology
- Genetics
- Epidemiology
Background:
- Hashimoto's thyroiditis (HT) is an autoimmune thyroid disorder affecting 5% of the US population.
- First-degree relatives of HT patients have a 4.5 to 32 times higher risk.
- High heritability of HT is estimated at approximately 65% from twin studies.
Purpose of the Study:
- To estimate the relative risk (RR) of developing HT in first-, second-, and third-degree relatives.
- To analyze familial risk using the Utah Population Database (UPDB).
Main Methods:
- Utilized the Utah Population Database (UPDB).
- Identified 92,405 HT probands and 184,810 matched controls.
- Analyzed 2,960,650 relatives of HT probands and 5,730,159 relatives of controls.
Main Results:
- Females were 2.71 times more likely to have HT than males.
- Odds ratio (OR) for first-degree relatives was 1.77 (95% CI 1.74-1.80).
- OR for second-degree relatives was 1.23 (95% CI 1.22-1.27), and for third-degree relatives was 1.11 (95% CI 1.10-1.12).
- Increased OR for spouses (1.50-1.58) suggests an environmental component.
Conclusions:
- This study provides the first estimates of HT risk for second- and third-degree relatives.
- The findings suggest both genetic and environmental factors contribute to HT development.
- Familial risk extends beyond first-degree relatives, highlighting broader genetic or shared environmental influences.
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