| Title: | Multi-ancestry genome-wide association analyses provide insights into the genetic basis of Hashimoto's thyroiditis |
| Journal: | Nature Genetics |
| Published: | 29 Jul 2026 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/42527560/ |
| DOI: | https://doi.org/10.1038/s41588-026-02704-w |
| URL: | https://www.nature.com/articles/s41588-026-02704-w.pdf |
Publication 21117
WARNING: the interactive features of this website use CSS3, which your browser does not support. To use the full features of this website, please update your browser.
Abstract
Autoimmune hypothyroidism (Hashimoto's thyroiditis) is common and has a strong genetic component. Here we performed multi-ancestry genome-wide association meta-analyses encompassing 48,694 Hashimoto's thyroiditis cases, using a precise case definition, and 1,044,134 controls. We identified 155 significant (P < 5 × 10−8) independent genetic associations, of which 45 variants and 19 loci were not previously associated with hypothyroidism. Six loci were specific for individuals of European ancestry reference populations. Functional enrichment analyses of Hashimoto's thyroiditis-associated genes highlighted immune cells and the spleen, underpinning the importance of T cells in Hashimoto's thyroiditis development. This observation was further supported by 161 significant colocalizations with expression quantitative trait loci in immune cells and 40 in thyroid tissue (for example, TG, VAV3, IRF5), highlighting the interplay between the immune system and the thyroid. Mendelian randomization indicated causal effects of Hashimoto's thyroiditis on cardiovascular traits and expected associations with thyroid hormone levels.</p>
12 Keywords
- Case-Control Studies
- East Asian People
- European People
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Hashimoto Disease
- Humans
- Mendelian Randomization Analysis
- Polymorphism, Single Nucleotide
- Quantitative Trait Loci
- Thyroid Gland
- White People
34 Authors
- Melissa N. Bujnis
- Rosalie B. T. M. Sterenborg
- Yong Li
- Bjørn Olav Åsvold
- Luka Brčić
- Vesna Boraska Perica
- Anav Babbar
- Joshua C. Denny
- Lars G. Fritsche
- Masahiro Kanai
- Ilze Konrade
- Graham Leese
- Eirini Marouli
- Andres Metspalu
- Marta R. Moksnes
- Bhramar Mukherjee
- Yukinori Okada
- Colin N. A. Palmer
- Areti Papadopoulou
- Raitis Peculis
- Vita Rovite
- Peter J. Sauer
- Enrique Soto-Pedre
- Sundararajan Srinivasan
- Inga Steinbrenner
- Maris Teder-Laving
- Bin Wang
- Antoine Weihs
- Chenjie Zeng
- Jin Zhou
- XiCheng Song
- Lynn B. Jorde
- Marco Medici
- Alexander Teumer
1 Application
| Application ID | Title |
|---|---|
| 20272 | GWAS of kidney function related traits and kidney disease |
Enabling scientific discoveries that improve human health