Jm. Annichino-bizzacchi et al., C282Y mutation in the HLA-H gene is not a risk factor for patients with myocardial infarction, J CARD RISK, 7(1), 2000, pp. 37-40
Background Iron is suspected to play a role in the development of atheroscl
erosis and in the progression of the disease, and consequently in myocardia
l 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 h
eterozygous hemochromatosis, most of whom are asymptomatic even with abnorm
alities of iron metabolism.
Objective To study C282Y mutation in the HLA-H gene of 173 survivors of myo
cardial 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 o
f the DNA fragment followed by RsaI digestion.
Results The prevalence of heterozygotes for the mutated allele both among p
atients and among controls was 1.74%. None of the 119 patients studied upon
diagnosis was a carrier of the mutation.
Conclusion Our data suggested that the most common cause of iron overload i
s not associated with myocardial infarction. J Cardiovasc Risk 7: 37-40 (C)
2000 Lippincott Williams & Wilkins.