title: Patients with type 2 diabetes have a high frequency of the C282Y mutation of the hemochromatosis gene.
abstract: OBJECTIVE
  To determine whether a specific mutation (C282Y) associated with primary hemochromatosis (PHC) is more common in patients with type 2 diabetes than in a control group of patients with type 1 diabetes. Patients with type 2 diabetes have a two- to threefold higher rate of PHC than the general population. Recent identification of a genetic mutation in patients with PHC raises the possibility that the mutation is related to type 2 diabetes.
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  One hundred and five patients with type 2 diabetes and 103 control patients with type 1 diabetes, who attended the same tertiary care diabetes clinic, who were of European origin, and in whom there was no clinical suspicion of hemochromatosis.
  
  
  METHODS
  Patients completed a brief clinical assessment and provided a blood sample. Iron studies were measured in serum, and DNA was assayed for the presence of the C282Y and H63D mutations of the HFE gene.
  
  
  RESULTS
  Twenty-three of 105 patients (21.9%, 95% confidence interval [CI] 14.0, 29.8) with type 2 diabetes (1 homozygote) and 12 of 103 patients (11.7%; 95% CI 5.5, 17.9) with type 1 diabetes (all heterozygotes) had at least 1 copy of the C282Y mutation (odds ratio [OR] = 2.1; 95% CI 1.0, 4.5; p = 0.048). Neither serum ferritin nor transferrin saturation level identified patients with a C282Y mutation.
  
  
  CONCLUSIONS
  The C282Y gene mutation is a potential genetic marker for type 2 diabetes. It, or a closely linked gene, may be associated with greater than 20% of cases of type 2 diabetes.
authors.affiliation: Department of Medicine, McMaster University, Hamilton, Ont.
authors.forename: T
authors.initials: T
authors.lastname: Kwan
authors.forename: B
authors.initials: B
authors.lastname: Leber
authors.forename: S
authors.initials: S
authors.lastname: Ahuja
authors.forename: R
authors.initials: R
authors.lastname: Carter
authors.forename: H C
authors.initials: HC
authors.lastname: Gerstein
mesh_terms: D000293:Adolescent; D000328:Adult; D003545:Cysteine / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D014443:Tyrosine / Q000235:genetics
chemical_list: D014443:Tyrosine; D003545:Cysteine