Article
Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.
Nature genetics - 1 Mar 2026
Reeve Mary Pat, Kanai Masahiro, Graham Daniel B, Karjalainen Juha, Luo Shuang, Kolosov Nikita, Adams Cameron, Ritari Jarmo, Karczewski Konrad J, Kiiskinen Tuomo, Jiang Yu, Fuller Zachary, Mehtonen Juha, Kurki Mitja I, Khan Zia, Partanen Jukka, McCarthy Mark I, Artomov Mykyta, Palotie Aarno, Tuomi Tiinamaija, Pirinen Matti, Kero Jukka, Xavier Ramnik J, Daly Mark J, Ripatti Samuli
Abstract excerpt
The high prevalence (>5%) of autoimmune hypothyroidism (AIHT) provides a unique opportunity to dissect genetic contributions to systemic and organ-specific autoimmunity. Here we performed a genome-wide association meta-analysis of 81,718 AIHT cases in FinnGen and the UK Biobank, identifying 418 independent signals (P < 5 × 10-8). At 48 of these loci, a protein-coding variant is, or is highly correlated...
Topics
- Genome-Wide Association Study
- Humans
- Thyroiditis, Autoimmune
- Genetic Predisposition to Disease
- Hashimoto Disease
- Thyroid Gland
- Neoplasms
- Polymorphism, Single Nucleotide