ESPE Yearbook of Paediatric Endocrinology

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....

JAMA. 2022;327(4):350-9. doi: 10.1001/jama.2021.23686.PubMed ID: 35076666Brief summary: This study assessed the penetrance of pathogenic and loss-of-function clinical variants in 2 large population-based biobank studies. It found that the penetrance of pathogenic/loss-of-function variants was variable but generally low among such unselected populations.We are increasing...

Nat Metab. 2021 Feb;3(2):228–243. doi: 10.1038/s42255-021-00346-2. PMID: 33619380.In brief: In this genome-wide association study, the authors were able to disentangle the mechanism that uncouples adiposity from its known cardiometabolic complications. They identified 62 genomic loci, at which the same allele is associated with both higher adiposity and lower cardiometabol...

To read the full abstract: Nature Medicine 2019; 25(3):507-516.This paper shows that quantitative leptin expression is controlled by redundant cis elements and trans factors that interact with the proximal promoter together with a long noncoding RNA.Friedman’s research group discovered the adipocyte hormone leptin more than 20 years ago. They identified loss o...