PREVALENCE OF HEREDITARY HEMOCHROMATOSIS IN PREMATURE ATHEROSCLEROTICVASCULAR-DISEASE

It has been proposed that iron accumulation may contribute to atheroge nesis by increasing free radical formation and oxidative stress. Epide miological studies in which the association of iron status with athero sclerosis was assessed raised conflicting results. To test whether gen etic haemochromatosis is associated with increased atherosclerosis, we determined the prevalence of two mutations in the HFE gene related to haemochromatosis (845G-->A; Cys282Tyr, and 187 C-->G, His63Asp) in 26 5 consecutive patients with premature (<50 years of age) angiographica lly-proven atherosclerotic disease (coronary and/or peripheral), and i n 272 healthy controls. PCR amplification followed by RsaI (Cys282Tyr analysis) and BcLI (His63Asp analysis) restriction digestion was emplo yed to define the genotypes. The mutant Cys282Tyr allele had a frequen cy of 0.07 among controls and 0.04 among patients (carrier frequency o f 14.0% and 8.3%, respectively). The frequency of the His63Asp mutant allele was 0.14 (28.6% of carriers) in controls and 0.11 (22.2% of car riers) in patients. Five of 265 patients (1.1%) and 9/272 controls (3. 3%) were compound heterozygotes. In conclusion, a lower prevalence of the Cys 282Tyr mutation and a similar frequency of the His63Asp mutati on was observed in patients with atherosclerotic disease in comparison with normal controls. These findings do not support an association be tween haemochromatosis and atherogenesis.