ISSN 1662-4009 (online)

Previous issue | Volume 21 | ESPEYB21

Yearbook of Paediatric Endocrinology 2024

11. Obesity and Weight Regulation

Genetic Risk Score and New Genes

ey0021.11-9 | Genetic Risk Score and New Genes | ESPEYB21

11.9. Elucidating pathways to pediatric obesity: a study evaluating obesity polygenic risk scores related to appetitive traits in children

TJ Renier , D Yeum , JA Emond , RK Lansigan , GA Ballarino , DD Carlson , RJF Loos , D Gilbert-Diamond

Brief Summary: This genetic epidemiology study genotyped n=248 unrelated children aged 9-12 years, computed 4 weighted polygenic risk scores (PRS), and investigated the associations between (1) appetitive traits and BMI, (2) PRSs and BMI, and (3) PRSs and appetitive traits. Appetite traits were evaluated using an obesogenic appetite score, which was calculated by combining mean scores of the food approach and food avoidance domains from the Child Eating Behavior Questionnaire....

ey0021.11-10 | Genetic Risk Score and New Genes | ESPEYB21

11.10. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

Y Zhao , M Chukanova , KA Kentistou , Z Fairhurst-Hunter , AM Siegert , RY Jia , GKC Dowsett , EJ Gardner , K Lawler , FR Day , LR Kaisinger , YCL Tung , Lam B Yee Hong , HJC Chen , Q Wang , J Berumen-Campos , P Kuri-Morales , R Tapia-Conyer , J Alegre-Diaz , I Barroso , J Emberson , JM Torres , R Collins , D Saleheen , KR Smith , DS Paul , F Merkle , IS Farooqi , NJ Wareham , S Petrovski , S O'Rahilly , KK Ong , GSH Yeo , JRB Perry

Brief Summary: This exome-wide association study conducted in the UK Biobank cohort (n=454 787) and in two non-European cohorts, the Mexican MCPS cohort (n=141 046) and the Pakistani PGR cohort (n=37 800), identified a association between rare protein-truncating variants (PTVs) in the APBA1 and the BSN genes and adult-onset obesity, suggesting two new genes as possible causes for monogenic obesity. Rare PTVs in BSN were also associated with Type 2 di...