title: Common exon 3 polymorphism of the GH receptor (GHR) gene and effect of GH therapy on growth in Korean children with idiopathic short stature (ISS).
abstract: OBJECTIVE
  A human GH receptor (GHR) gene exon 3 polymorphism (d3-GHR) has been reported to be associated with responsiveness to GH therapy. We assessed the frequencies of this polymorphism in Korean control and idiopathic short stature (ISS) populations, and analysed short-term growth response to GH therapy according to GHR-exon 3 genotypes in Korean children with ISS.
  
  
  METHODS
  This was a retrospective study in 158 ISS children. Auxological and endocrine parameters were measured, and the GHR-exon 3 genotype was analysed. Allelic frequencies of GHR-exon 3 genotype were compared between the ISS group and a control group. GH had been administered for 62 patients, 52 of whom remained prepubertal after the first follow-up year. Changes in height velocity (HV) and IGF-1 and IGFBP-3 concentrations following GH therapy were compared in patients with these genotypes.
  
  
  RESULTS
  There was no difference in GHR-exon 3 genotype frequency between ISS and control groups of Koreans. However, the fl/fl genotype was more frequent in Koreans than in Caucasians. ISS children with d3-GHR showed a significantly higher increment in HV (P = 0.002) and a marginally significant increment in IGF-1 concentration (P = 0.064) at the first year of GH therapy.
  
  
  CONCLUSIONS
  fl-GHR was more frequently detected in a Korean population than in Caucasians. The growth promotion efficacy of GH therapy differed significantly between ISS patients with and without the d3-GHR allele. These findings indicate that the GHR-exon 3 polymorphism can affect the growth promoting efficacy of short-term GH therapy in Korean children with ISS.
authors.affiliation: Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Ko
authors.forename: Jung Young
authors.initials: JY
authors.lastname: Park
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D044466:Asian People / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D005091:Exons; D005260:Female; D006130:Growth Disorders / Q000188:drug therapy* / Q000235:genetics*; D019382:Human Growth Hormone / Q000235:genetics* / Q000627:therapeutic use*; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008297:Male; D011110:Polymorphism, Genetic; D012189:Retrospective Studies
chemical_list: D002352:Carrier Proteins; D019382:Human Growth Hormone; C051815:somatotropin-binding protein