hrp0082fc7.2 | Growth promoting therapies | ESPE2014

The rs1024531 GRB10 Promoter Polymorphism is Associated with Response to GH Therapy in Patients with GH Deficiency: Validation by in vitro Functional Analysis

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

Background: GH response is influenced by genetic polymorphisms, including the rs1024531 polymorphism (A/G) in the promoter region of GRB10, a negative regulator of signaling through the IGF1 receptor. Allele A is associated with borderline lower baseline IGF1 SDS and 1.5-fold higher response to GH compared to allele G in children with GHD (P=0.0006).Objective: To test functional impact of the rs1024531 polymorphism in an in vitro</e...