ESPEYB21 3. Thyroid Thyroid Function - Genetic Determinants and Associations with Health and (Thyroid) Disease (4 abstracts)
3.4. Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease
Alexander T Williams , Jing Chen , Kayesha Coley , Chiara Batini , Abril Izquierdo , Richard Packer , Erik Abner , Stavroula Kanoni , David J Shepherd , Robert C Free , Edward J Hollox , Nigel J Brunskill , Ioanna Ntalla , Nicola Reeve , Christopher E Brightling , Laura Venn , Emma Adams , Catherine Bee , Susan E Wallace , Manish Pareek , Anna L Hansell , Tõnu Esko , Estonian Biobank Research Team , Daniel Stow , Benjamin M Jacobs , David A van Heel , Genes & Health Research Team , William Hennah , Balasubramanya S Rao , Frank Dudbridge , Louise V Wain , Nick Shrine , Martin D Tobin & Catherine John
Nat Commun. 2023 Oct 23;14(1):6713. doi: 10.1038/s41467-023-42284-5. PMID: 37872160
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. TSH polygenic scores were associated with thyroid diseases, including hypothyroidism, hyperthyroidism, and thyroid cancer. Testing biological pathways enrichment for the 112 putative causal genes highlighted classic signal transduction (G protein cAMP signaling), but also new pathways of interest like angiogenesis.
With the increasing ease of performing whole exome and genome sequencing, and the establishment of large biobanks, the number of published GWAS in thyroidology has rapidly increased. This study more than doubles the known genetic associations with TSH levels and highlights novel genes and pathways involved in thyroid regulation.
Volume 21
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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