ISSN 1662-4009 (online)

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...

ey0020.3-16 | Advances in Growth, Bone Biology, and Mineral Metabolism | ESPEYB20

3.16. A saturated map of common genetic variants associated with human height

L Yengo , S Vedantam , E Marouli , J Sidorenko , E Bartell , S Sakaue , M Graff , AU Eliasen , Y Jiang , S Raghavan , J Miao , JD Arias , SE Graham , RE Mukamel , CN Spracklen , X Yin , SH Chen , T Ferreira , HH Highland , Y Ji , T Karaderi , K Lin , K Lull , DE Malden , C Medina-Gomez , M …(See abstract for full author list) Machado

In Brief: This comprehensive genome-wide association study (GWAS) identified over 20 000 loci associated with adult height. This groundbreaking research revealed that up to 21% of the human genome can be linked to variation in human height, providing a deeper understanding of the complex regulation of human height.Commentary: This one of the largest GWAS to date involving 5.4 million individuals. It discovered 12 111 independent SNPs associated with adul...