Data/hora: 13/06/2024 05:01:38

Provedor de dados: | 56
País: | Brazil
Título: | HFE gene mutations in coronary atherothrombotic disease
Autores: | Calado,R.T.; Franco,R.F.; Pazin-Filho,A.; Simões,M.V.; Marin-Neto,J.A.; Zago,M.A.
Data: | 2000-03-01
Ano: | 2000
Palavras-chave: | Hemochromatosis; HFE gene; Atherosclerosis; Myocardial infarction; Risk factor.
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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000000300007
Editor: | Associação Brasileira de Divulgação Científica
Relação: | 10.1590/S0100-879X2000000300007
Formato: | text/html
Fonte: | Brazilian Journal of Medical and Biological Research  v.33 n.3 2000
Fonte: | info:eu-repo/semantics/openAccess