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Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical
Rosalie B T M Sterenborg1,2, Inga Steinbrenner3, Yong Li3
1Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Center, Nijmegen, The Netherlands.
Nature Communications
|January 30, 2024
Summary
This study identified numerous genetic associations for thyroid function, revealing new insights into thyroid hormone regulation and its impact on health. These findings advance our understanding of thyroid hormone physiology and its links to various diseases.
Area of Science:
- Endocrinology and Genetics
- Human Physiology
Background:
- The genetic underpinnings of thyroid function remain incompletely understood.
- Thyroid hormones play crucial roles in metabolism and overall health.
Approach:
- A large-scale genome-wide association study meta-analysis was conducted.
- Data from up to 271,040 individuals of European ancestry were analyzed for thyroid function traits.
- Thyrotropin (TSH), free thyroxine (FT4), and triiodothyronine (T3) levels were assessed.
Key Points:
- 259 independent significant associations for TSH (61% novel), 85 for FT4 (67% novel), and 62 novel signals for T3 traits were identified.
- These loci explained a significant portion of the variation in TSH, FT4, and T3 concentrations.
- Genetic correlations suggest TSH loci reflect thyroid function, while FT4 loci relate to thyroid hormone metabolism.
Conclusions:
- The study significantly expands the known genetic architecture of thyroid function.
- Genetically determined thyroid function variations influence cardiovascular health, autoimmune diseases, and cancer risk.
- These findings enhance the understanding of thyroid hormone physiology and its pleiotropic effects.
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