title: Association of oestrogen-receptor gene (ESR1) polymorphisms with migraine in the large Norfolk Island pedigree.
abstract: BACKGROUND
  Oestrogen receptor 1 ( ESR1) is located in region 6q25.1 and encodes a ligand-activated transcription factor composed of several domains important for hormone binding and transcription activation. Progesterone receptor ( PGR) is located in 11q22-23 and mediates the role of progesterone interacting with different transcriptional co-regulators. ESR1 and PGR have previously been implicated in migraine susceptibility. Here, we report the results of an association study of these genes in a migraine pedigree from the genetic isolate of Norfolk Island, a population descended from a small number of Isle of Man "Bounty Mutineer" and Tahitian founders.
  
  
  METHODS
  A significant number of molecular markers in the ESR1 (143) and PGR (43) genes were evaluated in a sample of 285 related individuals (135 males; 150 females). A pedigree-based analysis in the GenABEL package was used to analyse the results.
  
  
  CONCLUSIONS
  A total of 10 markers in the ESR1 gene showed association with migraine ( P  < 0.05) in the Norfolk Island population. No association was detected with PGR . Three haplotypes in ESR1 were found to be associated with migraine ( P  = 0.004, 0.03, 0.005). Future genetic studies in larger populations and expression analysis are required to clarify the role of ESR1 in migraine susceptibility.
authors.affiliation: Genomics Research Centre, Griffith Health Institute, Griffith University, Australia.
authors.forename: Astrid J
authors.initials: AJ
authors.lastname: Rodriguez-Acevedo
authors.forename: Bridget H
authors.initials: BH
authors.lastname: Maher
authors.forename: Rodney A
authors.initials: RA
authors.lastname: Lea
authors.forename: Miles
authors.initials: M
authors.lastname: Benton
authors.forename: Lyn R
authors.initials: LR
authors.lastname: Griffiths
mesh_terms: D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008542:Melanesia / Q000453:epidemiology; D008881:Migraine Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha
keywords: ESR1; Migraine; PGR; haplotype analysis; hormone receptor genes