title: Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly.
abstract: BACKGROUND
  The association of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms with clinical presentation, biochemical measurements and response to therapies in acromegaly have been suggested.
  
  
  OBJECTIVE
  To evaluate the presence of these polymorphisms in acromegaly and their influence on clinical and laboratorial characteristics of patients at diagnosis and after treatment in a large cohort of acromegalic patients.
  
  
  METHODS
  This is a cross-sectional study developed in a single tertiary reference center. Clinical data were obtained from the medical records of 186 acromegalic patients (116 women, age range 21-88 years). GH and IGF1 levels and GHR-exon 3 and -202 A/C IGFBP3 polymorphisms were evaluated in the same hospital.
  
  
  RESULTS
  At diagnosis, serum GH concentrations were lower in patients with GHR-d3 genotype than those with GHR-fl, whereas an association of lower IGFBP3 levels with d3 allele was observed only after neurosurgical or medical treatments. However, these associations were not confirmed in posterior statistical analysis.
  
  
  CONCLUSIONS
  Our results suggest that GHR-exon 3 and -202 A/C IGFBP3 polymorphisms did not show any consistent association on clinical and laboratorial features of acromegalic patients even after treatment.
authors.affiliation: Neuroendocrine Unit, Hospital das Clinicas, University of São Paulo Medical School, Av Dr Eneas de Carvalho Aguiar, 155, PAMB, 8 andar, São Paulo, SP, CEP: 05403-010, Brazil, raquel.jallad@hc.fm.usp.br.
authors.forename: Raquel S
authors.initials: RS
authors.lastname: Jallad
authors.forename: Ericka B
authors.initials: EB
authors.lastname: Trarbach
authors.forename: Felipe H
authors.initials: FH
authors.lastname: Duarte
authors.forename: Alexander A L
authors.initials: AA
authors.lastname: Jorge
authors.forename: Marcello D
authors.initials: MD
authors.lastname: Bronstein
mesh_terms: D000172:Acromegaly / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015415:Biomarkers / Q000097:blood; D001938:Brazil; D002352:Carrier Proteins / Q000235:genetics*; D003430:Cross-Sectional Studies; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D019382:Human Growth Hormone / Q000097:blood; D006801:Humans; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D011237:Predictive Value of Tests; D062606:Tertiary Care Centers; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D015415:Biomarkers; D002352:Carrier Proteins; C515497:IGFBP3 protein, human; D018972:Insulin-Like Growth Factor Binding Protein 3; D019382:Human Growth Hormone; C051815:somatotropin-binding protein