title: Population-based study of the relationship between mutations in the hemochromatosis (HFE) gene and arthritis.
abstract: OBJECTIVE
  Mutations in the hemochromatosis (HFE) gene are carried by one in three individuals of British Isles descent and may result in increased iron stores. These increased iron stores could potentially induce or exacerbate diseases, such as arthritis, in which iron has a role in pathogenesis. Although arthritis is a well-known association of clinically overt hereditary hemochromatosis, controversy surrounds the role of mutations in the HFE gene as risk factors for arthritis. The aim of the present study was to determine whether mutations in the HFE gene are associated with an increased prevalence of arthritis.
  
  
  METHODS
  A population-based study was conducted in Busselton, Western Australia, of the prevalence of arthritis in 1372 individuals of British Isles descent. Participants completed a questionnaire and general physical examination. Analysis for C282Y and H63D HFE mutations was undertaken. Unadjusted and adjusted odds ratios (OR) were calculated for the relationship between HFE mutations and the prevalence of self-reported, doctor-diagnosed arthritis.
  
  
  RESULTS
  There was no association between the presence of HFE mutations and the prevalence of self-reported, doctor-diagnosed arthritis (C282Y/wild type (WT) adjusted OR = 1.041 (95% confidence interval (CI) 0.68-1.61), H63D/WT OR = 0.76 (95% CI 0.53-1.08), C282Y/C282Y OR = 0.39 (95% CI 0.04-3.63), C282Y/H 63D OR = 0.808 (95% CI 0.27-2.42), H63D/H63D OR = 0.419 (95% CI 0.13-1.36)). Overall adjusted OR for arthritis in participants with one or more HFE mutations was 0.81 (95% CI 0.61-1.09).
  
  
  CONCLUSIONS
  Mutations of the HFE gene are not risk factors for arthritis in populations of British Isles descent.
authors.affiliation: Department of Gastroenterology, Fremantle Hospital, Fremantle, Western Australia, Australia.
authors.forename: Colin A
authors.initials: CA
authors.lastname: Sherrington
authors.forename: Matthew W
authors.initials: MW
authors.lastname: Knuiman
authors.forename: Mark L
authors.initials: ML
authors.lastname: Divitini
authors.forename: Helen C
authors.initials: HC
authors.lastname: Bartholomew
authors.forename: Digby J
authors.initials: DJ
authors.lastname: Cullen
authors.forename: John K
authors.initials: JK
authors.lastname: Olynyk
mesh_terms: D000328:Adult; D001168:Arthritis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D012307:Risk Factors; D014904:Western Australia / Q000453:epidemiology