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ey0019.15-14 | Basic Science and Genetics | ESPEYB19

15.14. Population-based penetrance of deleterious clinical variants

IS Forrest , K Chaudhary , HMT Vy , BO Petrazzini , S Bafna , DM Jordan , G Rocheleau , RJF Loos , GN Nadkarni , JH Cho , R Do

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...

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ey0018.12-10 | Metabolic Syndrome | ESPEYB18

12.10. Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities

LO Huang , A Rauch , E Mazzaferro , M Preuss , S Carobbio , CS Bayrak , N Chami , Z Wang , UM Schick , N Yang , Y Itan , A Vidal-Puig , M den Hoed , S Mandrup , TO Kilpelainen , RJF Loos

Nat Metab. 2021 Feb;3(2):228243. 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...

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ey0016.11-4 | New Insights into Body Weight Regulation | ESPEYB16

11.4. Dysregulation of a long noncoding RNA reduces leptin leading to a leptin-responsive form of obesity

OS Dallner , JM Marinis , YH Lu , K Birsoy , E Werner , G Fayzikhodjaeva , BD Dill , H Molina , A Moscati , Z Kutalik , P Marques-Vidal , TO Kilpelainen , N Grarup , A Linneberg , Y Zhang , R Vaughan , RJF Loos , MA Lazar , JM Friedman

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.Friedmans research group discovered the adipocyte hormone leptin more than 20 years ago. They identified loss o...

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ESPE Yearbook of Paediatric Endocrinology

15.14. Population-based penetrance of deleterious clinical variants

12.10. Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities

11.4. Dysregulation of a long noncoding RNA reduces leptin leading to a leptin-responsive form of obesity

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