HFE gene mutations in coronary atherothrombotic disease
Braz. j. med. biol. res
; 33(3): 301-6, Mar. 2000. tab
Article
em En
| LILACS
| ID: lil-255049
Biblioteca responsável:
BR1.1
ABSTRACT
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 per cent), whereas the mutant His63Asp allele had a frequency of 0.143 (carrier frequency, 27.5 per cent) in controls and of 0.134 (carrier frequency, 24.5 per cent) in patients. Compound heterozygotes were found in 2 of 160 (1.2 per cent) controls and in 1 of 160 (0.6 per cent) 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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Doença da Artéria Coronariana
/
Genes MHC Classe I
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Antígenos de Histocompatibilidade Classe I
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Antígenos HLA
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Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
Braz. j. med. biol. res
Ano de publicação:
2000
Tipo de documento:
Article