hrp0084p2-398 | GH & IGF | ESPE2015

The In vitro Functional Analysis of Gene Promoter Region Single Nucleotide Polymorphisms Associated with GH Response in Children with GH Deficiency

De Leonibus Chiara , Murray Philip , Hanson Dan , Stevens Adam , Clayton Peter

Background: Response to GH treatment has been associated with single nucleotide polymorphisms (SNPs) within the promoter region of growth-related genes including GRB10 (rs1024531 (A/G, allele A increased response)), IGFBP3 (rs3110697 (G/A, G increased response)), CYP19A1 (rs10459592 (T/C, T increased response)) and SOS1 (rs2888586 (G/C, C increased response)). SOS1 is a positive regulator of GH signalling (MAPK pathway); the aromatase CYP19A1 promotes oestrogen synthesis to im...