title: Effect of an estrogen receptor-alpha intron 4 polymorphism on fat mass in 11-year-old children.
abstract: BACKGROUND
  Polymorphisms in the ESR1 gene encoding estrogen receptor (ER)-alpha may be associated with fat mass in adults.
  
  
  OBJECTIVE
  The objective of the study was to establish whether ESR1 polymorphisms influence fat mass in childhood.
  
  
  METHODS
  This was a cross-sectional analysis after genotyping of rs9340799, rs2234693, and rs7757956 ESR1 polymorphisms.
  
  
  METHODS
  The Avon Longitudinal Study of Parents and Children (ALSPAC) was a population-based prospective study.
  
  
  METHODS
  Participants included 3097 11-yr-old children with results for ESR1 genotyping, puberty measures, and dual-energy x-ray absorptiometry results.
  
  
  RESULTS
  Relationships between ESR1 polymorphisms and indices of body composition were measured.
  
  
  RESULTS
  The rs7757956 polymorphism was associated with fat mass (P = 0.002). Total body fat mass (adjusted for height) was reduced by 6% in children with TA/AA genotypes, and risk of being overweight (> or =85th centile of fat mass) was decreased by 20%. This genetic effect appeared to interact with puberty in girls (P = 0.05 for interaction): in those with the TT genotype, total body fat mass (adjusted for height) was 18% higher in Tanner stages 3-5 vs. stages 1-2; the equivalent difference was 7% in those with TA/AA genotypes. Furthermore, the risk of being overweight was 36% lower in girls with TA/AA genotypes in Tanner stages 3-5, but no reduction was seen in those in stages 1-2. Neither rs9340799 nor rs2234693 polymorphisms were associated with body composition measures.
  
  
  CONCLUSIONS
  Fat mass in 11-yr-old children was related to the rs7757956 ESR1 polymorphism. This association was strongest in girls in more advanced puberty, in whom the risk of being overweight was reduced by 36% in those with the TA/AA genotype.
authors.affiliation: Rheumatology Unit, Bristol Royal Infirmary, Bristol, UK. jon.tobias@bristol.ac.uk
authors.forename: J H
authors.initials: JH
authors.lastname: Tobias
authors.forename: C D
authors.initials: CD
authors.lastname: Steer
authors.forename: C
authors.initials: C
authors.lastname: Vilarino-Güell
authors.forename: M A
authors.initials: MA
authors.lastname: Brown
mesh_terms: D015502:Absorptiometry, Photon; D000273:Adipose Tissue / Q000000981:diagnostic imaging / Q000502:physiology*; D001823:Body Composition / Q000235:genetics*; D001827:Body Height; D002648:Child; D003430:Cross-Sectional Studies; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008137:Longitudinal Studies; D008297:Male; D009765:Obesity / Q000453:epidemiology / Q000235:genetics; D011110:Polymorphism, Genetic; D011627:Puberty; D012307:Risk Factors
chemical_list: D047628:Estrogen Receptor alpha