ISSN 1662-4009 (online)

ey0019.5-18 | Advances in skeletal biology | ESPEYB19

5.18. Genes with specificity for expression in the round cell layer of the growth plate are enriched in genome wide association study (GWAS) of human height

N.E Renthal , P Nakka , J.M Baronas , H.M Kronenberg , J.N. Hirschhorn

J Bone Miner Res 36, 2300–2308. (2021)Abstract: brief: The genetic basis of human body height is only partly understood. This study combined genome-wide association study (GWAS) data with expression data from specific chondrocyte populations to identify genes responsible for skeletal growth. They found strong a...

ey0018.4-13 | New Paradigms | ESPEYB18

4.13 A Genome-wide pharmacogenetic study of growth hormone responsiveness

A Dauber , Y Meng , L Audi , S Vedantam , B Weaver , A Carrascosa , K Albertsson-Wikland , M Ranke , A Jorge , J Cara , MP Wajnrajch , A Lindberg , C Camacho-Hübner , JN Hirschhorn

J Clin Endocrinol Metab. 2020;105:3203–3214. doi: 10.1210/clinem/dgaa443. PMID: 32652002The authors performed a large genome-wide association study (GWAS) to assess the role of common genetic variants in the response to GH therapy. A total of 614 children treated with GH were included: 276 with idiopathic GHD, 297 with ISS, and 41 born SGA. The findings implicate some novel mechanisms...