ISSN 1662-4009 (online)

ey0019.7-13 | Basic Science | ESPEYB19

7.13. Multi- and transgenerational outcomes of an exposure to a mixture of endocrine-disrupting chemicals (EDCs) on puberty and maternal behavior in the female rat

D Lopez-Rodriguez , CF Aylwin , V Delli , E Sevrin , M Campanile , M Martin , D Franssen , A Gerard , S Blacher , E Tirelli , A Noel , A Lomniczi , AS Parent

Environ Health Perspect.2021 Aug;129(8):87003. doi: 10.1289/EHP8795. Epub 2021 Aug 12. PMID: 34383603. https://ehp.niehs.nih.gov/doi/10.1289/EHP8795?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmedBrief Summary: Using a rode...

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...

ey0021.8-13 | New Hope | ESPEYB21

8.13. The role of interferon-[gamma] in autoimmune polyendocrine syndrome Type 1

V Oikonomou , G Smith , GM Constantine , MM Schmitt , EMN Ferre , JC Alejo , D Riley , D Kumar , Dias L Dos Santos , J Pechacek , Y Hadjiyannis , T Webb , BA Seifert , R Ghosh , M Walkiewicz , D Martin , M Besnard , BD Snarr , S Deljookorani , CR Lee , T DiMaggio , P Barber , LB Rosen , A Cheng , A Rastegar , AA de Jesus , J Stoddard , HS Kuehn , TJ Break , HH Kong , L Castelo-Soccio , B Colton , BM Warner , DE Kleiner , MM Quezado , JL Davis , KP Fennelly , KN Olivier , SD Rosenzweig , AF Suffredini , MS Anderson , M Swidergall , C Guillonneau , LD Notarangelo , R Goldbach-Mansky , O Neth , MT Monserrat-Garcia , J Valverde-Fernandez , JM Lucena , AL Gomez-Gila , A Garcia Rojas , MRJ Seppanen , J Lohi , M Hero , S Laakso , P Klemetti , V Lundberg , O Ekwall , P Olbrich , KK Winer , B Afzali , NM Moutsopoulos , SM Holland , T Heller , S Pittaluga , MS Lionakis

Brief Summary: This study suggests that excessive interferon-γ–mediated responses have a pathogenic role in APS-1 and provides the foundation for therapies that affect interferon-γ–mediated disease.Commentary: Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED), is an autosomal recessive multiorgan syndrome caused by loss-of-function variants in ...