Premium
Prevalence of hereditary haemochromatosis in premature atherosclerotic vascular disease
Author(s) -
Rendrik F. Franco,
M. A. Zago,
Mieke D. Trip,
Hugo Ten Cate,
A. van den Ende,
Martin H. Prins,
J.J.P. Kastelein,
Pieter H. Reitsma
Publication year - 1998
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1998.00898.x
Subject(s) - hemochromatosis , medicine , compound heterozygosity , allele , genotype , coronary atherosclerosis , heterozygote advantage , gastroenterology , allele frequency , disease , mutation , case control study , coronary artery disease , genetics , gene , biology
It has been proposed that iron accumulation may contribute to atherogenesis by increasing free radical formation and oxidative stress. Epidemiological studies in which the association of iron status with atherosclerosis was assessed raised conflicting results. To test whether genetic 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 265 consecutive patients with premature (<50 years of age) angiographically‐proven atherosclerotic disease (coronary and/or peripheral), and in 272 healthy controls. PCR amplification followed by Rsa I (Cys282Tyr analysis) and Bcl I (His63Asp analysis) restriction digestion was employed to define the genotypes. The mutant Cys282Tyr allele had a frequency of 0.07 among controls and 0.04 among patients (carrier frequency of 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 carriers) 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 mutation was observed in patients with atherosclerotic disease in comparison with normal controls. These findings do not support an association between haemochromatosis and atherogenesis.