title: The growth hormone receptor exon 3 polymorphism is not associated with height or metabolic traits in healthy young adults.
abstract: BACKGROUND
  The GHR polymorphisms contribution to the interindividual variability in prenatal and postnatal growth as well as to metabolic traits is controversial.
  
  
  OBJECTIVE
  The aim of this study is to analyze the association of the GHRfl/d3 polymorphism with prenatal and postnatal growth and metabolic outcomes in adult life and to compare the genotype distribution in different populations.
  
  
  METHODS
  385 community healthy subjects followed from birth to adult life (23-25years old) were grouped according to birth size: small-SGA (n=130, 62 males), appropriate-AGA (n=162, 75 males) and large for gestational age-LGA (n=93, 48 males). GHRfl/d3 genotype distribution and its potential association with anthropometric (at birth, childhood and adult life) and metabolic features (in adult life) were analyzed and compared with data obtained from a systematic review of GHRfl/d3 association studies (31 articles).
  
  
  RESULTS
  The frequency of the GHR d3/d3 genotype was lower in the LGA (χ2 p=0.01); SGA and AGA subjects exhibited an increased chance of the d3/d3 genotype (OR=3.58; 95%CI: 1.55; 8.24) and (OR=2.39; 95%CI: 1.02; 5.62), respectively. Despite the different prevalence among different birth size groups, in adults, GHRfl/d3 genotype was not associated with height, plasma IGF1 levels or metabolic phenotype and cardiovascular risk. GHRfl/d3 genotype distributions in AGA, SGA and LGA groups were comparable with those found in subjects of European origin but not with those of Asian ancestry.
  
  
  CONCLUSIONS
  The GHRd3 genotype was negatively associated with birth size but it was not associated with adult height or weight, plasma IGF1, metabolic phenotype or any marker of increased cardiovascular risk in young adults.
authors.affiliation: Department of Internal Medicine, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Clarissa S
authors.initials: CS
authors.lastname: Martins
authors.affiliation: Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Fabio L
authors.initials: FL
authors.lastname: Fernandes-Rosa
authors.affiliation: Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Aniette R
authors.initials: AR
authors.lastname: Espineira
authors.affiliation: Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Roberto Molina
authors.initials: RM
authors.lastname: de Souza
authors.affiliation: Department of Internal Medicine, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Margaret
authors.initials: M
authors.lastname: de Castro
authors.affiliation: Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Marco A
authors.initials: MA
authors.lastname: Barbieri
authors.affiliation: Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, SP, Brazil.
authors.forename: Heloisa
authors.initials: H
authors.lastname: Bettiol
authors.affiliation: Department of Endocrinology, School of Medicine, University of Sao Paulo, Sao Paulo, SP, Brazil.
authors.forename: Alexander L
authors.initials: AL
authors.lastname: Jorge
authors.affiliation: Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, SP, Brazil. Electronic address: antonini@fmrp.usp.br.
authors.forename: Sonir R
authors.initials: SR
authors.lastname: Antonini
mesh_terms: D000328:Adult; D001724:Birth Weight / Q000235:genetics; D001827:Body Height / Q000235:genetics; D004734:Energy Metabolism / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D048788:Growth and Development / Q000235:genetics; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D011986:Receptors, Somatotropin / Q000235:genetics*; D055815:Young Adult
chemical_list: D011986:Receptors, Somatotropin
keywords: Birth weight; Cardiovascular disease; Growth; Growth hormone receptor; Risk factors