Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases

Background Haemochromatosis is a common genetic disorder, inherited as an a utosomal recessive trait that results in a progressive accumulation of iron in most tissues of the body. Positive association studies have been recent ly published between cardiovascular diseases and heterozygosity for the maj or mutation C282Y in the haemochromatosis gene HFE. Methods In the present work, we have determined the HFE genotypes for C282Y and H63D in subjects from two case-control studies: the ECTIM and GENIC st udies, designed to identify genetic variants associated with myocardial and brain infarction, respectively. In addition, we tested whether HFE mutatio ns were associated with the degree of arteriosclerosis assessed non-invasiv ely by Doppler ultrasonography on the carotid and femoral arteries, in a gr oup of apparently healthy individuals (the AXA Study). Results The prevalence of 282Y, and 63D allele carriers, did not differ bet ween cases and controls in the ECTIM and in the GENIC studies, while 63D bu t not 282Y carriers were more numerous among subjects with atherosclerotic plaques in the AXA Study. Conclusions These three studies do not provide consistent evidence supporti ng the hypothesis that HFE mutations are associated with an increased risk of cardiovascular disease and with the development of arteriosclerosis.