title: The d3/fl-GH receptor gene polymorphism does not influence quality of life and body composition in GH-deficient adults receiving GH replacement therapy.
abstract: BACKGROUND
  The growth response to recombinant human growth hormone (rhGH) in GH deficient (GHD) patients may be influenced by polymorphisms in the growth hormone receptor (GHR) gene.
  
  
  OBJECTIVE
  To investigate adults with GHD who have been treated with rhGH for more than 1 year to determine the relationship between genomic deletion of exon 3 in the GHR gene and quality of life (QoL), body composition (BC) and serum IGF1 levels, and to compare these variables to a healthy adult control population.
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  A total of 100 healthy adult controls and 131 patients were studied. Deletion of exon 3 in the GHR gene was determined in DNA that was isolated from peripheral blood. QoL was determined using the adult GHD assessment scale and three other validated QoL instruments.
  
  
  RESULTS
  In the control population, the frequency of the genotypes was 53% fl/fl, 40% d3/fl and 7% d3/d3, and in the patient population, 55, 39 and 6% respectively. There was no significant difference in QoL scores and BC in control subjects with the fl/fl genotype compared with those with the d3/d3 or fl/d3 genotype. There was no difference in the rhGH dose required to optimize serum IGF1, QoL or BC in patients with the fl/fl genotype compared with those with the d3/d3 or d3/fl genotype.
  
  
  CONCLUSIONS
  Deletion of exon 3 in the GHR gene does not influence adult height, QoL or BC of the normal adult population nor does it influence rhGH dose, QoL and BC in GHD adults treated with rhGH for more than 1 year.
authors: The University Department of Diabetes and Endocrinology, University Hospital Aintree, Liverpool, L9 7AL, UK. o.r.adetunji@liverpool.ac.uk
authors: O R
authors: OR
authors: Adetunji
authors: I A
authors: IA
authors: MacFarlane
authors: M
authors: M
authors: Javadpour
authors: A
authors: A
authors: Alfirevic
authors: M
authors: M
authors: Pirmohamed
authors: J C
authors: JC
authors: Blair
mesh_terms: D000328:Adult; D000886:Anthropometry; D001823:Body Composition / Q000502:physiology; D005260:Female; D005838:Genotype; D020249:Hormone Replacement Therapy / Q000009:adverse effects*; D019382:Human Growth Hormone / Q000009:adverse effects / Q000172:deficiency* / Q000627:therapeutic use*; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics; D011788:Quality of Life; D011986:Receptors, Somatotropin / Q000235:genetics*; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D011986:Receptors, Somatotropin; D011994:Recombinant Proteins; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I