Related Experiment Video
Updated: Aug 5, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
Published on: March 17, 2023
Multi-ancestry genome-wide association analyses provide insights into the genetic basis of Hashimoto's thyroiditis
Melissa N Bujnis1, Rosalie B T M Sterenborg2,3, Yong Li4
1Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.
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.
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...