Abstract Search

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...

0 shares

ey0019.15-10 | Assorted Conditions | ESPEYB19

15.10. Metabolomic profiling reveals extensive adrenal suppression due to inhaled corticosteroid therapy in asthma

P Kachroo , ID Stewart , RS Kelly , M Stav , K Mendez , A Dahlin , DI Soeteman , SH Chu , M Huang , M Cote , HM Knilhtila , K Lee-Sarwar , M McGeachie , A Wang , AC Wu , Y Virkud , P Zhang , NJ Wareham , EW Karlson , CE Wheelock , C Clish , ST Weiss , C Langenberg , JA Lasky-Su

Nat Med. 2022;28(4):814-22. doi: 10.1038/s41591-022-01714-5.PubMed ID: 35314841Brief summary: This study performed large-scale metabolomic profiling across 14 000 adults from 4 cohorts and identified 17 steroid metabolites whose levels were reduced in individuals with prevalent asthma. The largest reductions were associated with inhaled corticosteroid (ICS) treatment, and these were valida...

0 shares

ESPE Yearbook of Paediatric Endocrinology

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

15.10. Metabolomic profiling reveals extensive adrenal suppression due to inhaled corticosteroid therapy in asthma

BiosciAbstracts