title: Haemochromatosis gene mutations and risk of coronary artery disease.
abstract: The identification of mutations in the haemochromatosis gene (HFE) (C282Y and H63D) provides the unique opportunity to test whether genetic variants that are associated with tissue iron accumulation may influence the risk of coronary atherosclerosis. To this aim the prevalence of C282Y and H63D mutations was determined in 174 patients with angiographically documented CAD (>50% stenosis) and history of MI, 187 healthy free-living individuals and 142 blood donors. C282Y and H63D mutations were not found to be more frequent in coronary patients as compared to controls. Moreover, these HFE variants were unrelated to the severity of coronary atherosclerosis. These findings did not provide evidence of an association between HFE mutations and the presence of coronary atherosclerosis or its major ischaemic complications, thus indicating that HFE mutations are poor genetic markers of coronary risk.
authors.affiliation: Cattedra di Patologia Clinica, Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Battiloro
authors.forename: D
authors.initials: D
authors.lastname: Ombres
authors.forename: E
authors.initials: E
authors.lastname: Pascale
authors.forename: E
authors.initials: E
authors.lastname: D'Ambrosio
authors.forename: R
authors.initials: R
authors.lastname: Verna
authors.forename: M
authors.initials: M
authors.lastname: Arca
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D003327:Coronary Disease / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation; D012307:Risk Factors
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron