ISSN 1662-4009 (online)

ey0021.3-13 | Thyroid Autoimmunity | ESPEYB21

3.13. Epigenome-wide association study shows differential DNA methylation of MDC1, KLF9, and CUTA in autoimmune thyroid disease

Lafontaine Nicole , Shore Christopher J , Campbell Purdey J , Mullin Benjamin H , Brown Suzanne J , Panicker Vijay , Dudbridge Frank , Brix Thomas H , Hegedus Laszlo , Wilson Scott G , Bell Jordana T , Walsh John P

Brief Summary: This epigenome-wide association study (EWAS) aimed to identify differentially methylated positions (DMPs) and regions (DMRs) between Graves’ disease (GD) and Hashimoto’s disease (HD) in two independent patient cohorts from Australia (30 patients with GD and 30 with HD, discovery cohort) and Denmark (32 patients with GD and 32 with HD, replication cohort). Linear mixed models were used to test for differences in quantile-normalized β values of DNAm...

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...