New Genetic Findings

ey0017.11-2 | New Genetic Findings | ESPEYB17

11.2. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

M Baron , J Maillet , M Huyvaert , A Dechaume , R Boutry , H Loiselle , E Durand , B Toussaint , E Vaillant , J Philippe , J Thomas , A Ghulam , S Franc , G Charpentier , JM Borys , C Levy-Marchal , M Tauber , R Scharfmann , J Weill , C Aubert , J Kerr-Conte , F Pattou , R Roussel , B Balkau , M Marre , M Boissel , M Derhourhi , S Gaget , M Canouil , P Froguel , A Bonnefond

To read the full abstract: Nature Medicine. 2019;25(11):17338. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....

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ey0017.11-3 | New Genetic Findings | ESPEYB17

11.3. Human gain-of-function MC4R variants show signaling bias and protect against obesity

LA Lotta , J Mokrosinski , E Mendes de Oliveira , C Li , SJ Sharp , J Luan , B Brouwers , V Ayinampudi , N Bowker , N Kerrison , V Kaimakis , D Hoult , ID Stewart , E Wheeler , FR Day , JRB Perry , C Langenberg , NJ Wareham , IS Farooqi

To read the full abstract: Cell 2019;177 (3):59-607.e9. PMID 31002796.A recent GWAS showed that the heritability of thinness was comparable to that of obesity (1). Some loci showed effects across the entire BMI distribution. This is also true for variants in MC4R. The present study analyzed data on ˜0.5 million people from UK Biobank, with a focus on 61 nonsynonymous var...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2020

11. Obesity and Weight Regulation

11.2. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

11.3. Human gain-of-function MC4R variants show signaling bias and protect against obesity

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