HFE gene mutations in coronary atherothrombotic disease
AUTOR(ES)
Calado, R.T., Franco, R.F., Pazin-Filho, A., Simões, M.V., Marin-Neto, J.A., Zago, M.A.
FONTE
Brazilian Journal of Medical and Biological Research
DATA DE PUBLICAÇÃO
2000-03
RESUMO
Although iron can catalyze the production of free radicals involved in LDL lipid peroxidation, the contribution of iron overload to atherosclerosis remains controversial. The description of two mutations in the HFE gene (Cys282Tyr and His63Asp) related to hereditary hemochromatosis provides an opportunity to address the question of the association between iron overload and atherosclerosis. We investigated the prevalence of HFE mutations in 160 survivors of myocardial infarction with angiographically demonstrated severe coronary atherosclerotic disease, and in 160 age-, gender- and race-matched healthy control subjects. PCR amplification of genomic DNA followed by RsaI and BclI restriction enzyme digestion was used to determine the genotypes. The frequency of the mutant Cys282Tyr allele was identical among patients and controls (0.022; carrier frequency, 4.4%), whereas the mutant His63Asp allele had a frequency of 0.143 (carrier frequency, 27.5%) in controls and of 0.134 (carrier frequency, 24.5%) in patients. Compound heterozygotes were found in 2 of 160 (1.2%) controls and in 1 of 160 (0.6%) patients. The finding of a similar prevalence of Cys282Tyr and His63Asp mutations in the HFE gene among controls and patients with coronary atherothrombotic disease, indirectly questions the possibility of an association between hereditary hemochromatosis and atherosclerosis.
Documentos Relacionados
- Beyond Atherothrombotic Disease in Acute Coronary Syndrome
- HFE gene mutations in Brazilian thalassemic patients
- Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis
- Hemochromatosis (HFE) gene mutations in Brazilian chronic hemodialysis patients
- HFE MUTATIONS AND IRON OVERLOAD IN PATIENTS WITH ALCOHOLIC LIVER DISEASE