title: C282Y mutation in the HLA-H gene is not a risk factor for patients with myocardial infarction.
abstract: BACKGROUND
  Iron is suspected to play a role in the development of atherosclerosis and in the progression of the disease, and consequently in myocardial infarction. Authors of a recent study identified a mutation in HLA-H gene, C282Y, that is an excellent marker for hemochromatosis, which is the most common cause of iron overload. There is a high prevalence of carriers of heterozygous hemochromatosis, most of whom are asymptomatic even with abnormalities of iron metabolism.
  
  
  OBJECTIVE
  To study C282Y mutation in the HLA-H gene of 173 survivors of myocardial infarction matched with 172 controls by age, race, and sex, and 119 patients upon diagnosis of acute myocardial infarction.
  
  
  METHODS
  Identification of the mutation was performed by PCR amplification of the DNA fragment followed by Rsal digestion.
  
  
  RESULTS
  The prevalence of heterozygotes for the mutated allele both among patients and among controls was 1.74%. None of the 119 patients studied upon diagnosis was a carrier of the mutation.
  
  
  CONCLUSIONS
  Our data suggested that the most common cause of iron overload is not associated with myocardial infarction.
authors.affiliation: Hemocentro da Unicamp, FCM Campinas, São Paulo, Brazil. joyce@obelix.unicamp.br
authors.forename: J M
authors.initials: JM
authors.lastname: Annichino-Bizzacchi
authors.forename: S T
authors.initials: ST
authors.lastname: Saad
authors.forename: V R
authors.initials: VR
authors.lastname: Arruda
authors.forename: J A
authors.initials: JA
authors.lastname: Ramires
authors.forename: L H
authors.initials: LH
authors.lastname: Siqueira
authors.forename: L C
authors.initials: LC
authors.lastname: Chiaparini
authors.forename: A P
authors.initials: AP
authors.lastname: Mansur
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D016022:Case-Control Studies; D015331:Cohort Studies; D016001:Confidence Intervals; D003430:Cross-Sectional Studies; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009203:Myocardial Infarction / Q000453:epidemiology / Q000235:genetics*; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D015995:Prevalence; D012307:Risk Factors; D012680:Sensitivity and Specificity
chemical_list: D006680:HLA Antigens; D015395:Histocompatibility Antigens Class I