ISSN 1662-4009 (online)

ey0021.3-4 | Thyroid Function - Genetic Determinants and Associations with Health and (Thyroid) Disease | ESPEYB21

3.4. Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease

Williams Alexander T , Chen Jing , Coley Kayesha , Batini Chiara , Izquierdo Abril , Packer Richard , Abner Erik , Kanoni Stavroula , Shepherd David J , Free Robert C , Hollox Edward J , Brunskill Nigel J , Ntalla Ioanna , Reeve Nicola , Brightling Christopher E , Venn Laura , Adams Emma , Bee Catherine , Wallace Susan E , Pareek Manish , Hansell Anna L , Esko Tonu , Research Team Estonian Biobank , Stow Daniel , Jacobs Benjamin M , van Heel David A , & Health Research Team Genes , Hennah William , Rao Balasubramanya S , Dudbridge Frank , Wain Louise V , Shrine Nick , Tobin Martin D , John Catherine

Brief Summary: This study investigated genetic factors influencing normal variation in TSH levels (range 0.4 to 4.0 mIU/L) through a large genome-wide association study (GWAS) involving 247,107 European ancestry individuals. It identified 260 independent sentinel variants, of which 158 are novel. These variants explained 22.8% of TSH variance within the adult reference interval, implicating 112 putative causal genes, 76 of which had not been previously linked to TSH regulation...