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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, 23002308. (2021)Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/34346115/In 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...

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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...

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ESPE Yearbook of Paediatric Endocrinology

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

4.13 A Genome-wide pharmacogenetic study of growth hormone responsiveness

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