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HFE mutations in heart disease

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Abstract

Given the reported association of cardiac complications with hereditary hemochromatosis and the high carrier frequency of HFE gene mutations in the natural population, it seems reasonable that such mutations might appear more frequently than expected among symptomatic cardiac patients. Thus, H63D, C282Y, and S65C mutations and their possible associations were examined in 477 Caucasian males undergoing coronary angiography. Genotypes were analyzed for differences between ferritin and transferrin levels, coronary artery disease (CAD), cardiomyopathy (CM), and cardiovascular disease (CVD) mortality. No significant differences were found in ferritin levels between those with or without HFE mutations (C282Y P = 0.632, H63D P = 0.765, S65C P = 0.568, and HFE mutation P = 0.568); however, there was a significant difference (P = 0.005) in mean transferrin levels between those with (252 μg/l) and without (275 μg/l) C282Y. No relationship between HFE mutations and CAD (C282Y, P = 0.402; H63D, P = 0.112; S65C, P = 0.170) or CVD death (C282Y, P = 0.560; H63D, P = 0.682; S65C, P = 0.664) was demonstrated using logistic regression. However, an association between S65C and CM was found (odds ratio 4.4; 95% confidence interval 1.3–13.3, P = 0.018). This suggests that the S65C allele may contribute to the development of CM, but that these three HFE mutations do not appear to play a significant role in development of ischemic heart disease.

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Author notes

  1. Derek Blankenship

    Present address: Baylor Health Care System, Institute for Health Care Research and Improvement, Dallas, TX, USA

Authors and Affiliations

  1. Department of Pathology, University of Oklahoma Health Sciences Center, BMSB451, P.O. Box 26901, Oklahoma, OK, 73190, USA

    Terence Dunn, Nicole Beal & Richard Allen

  2. Department of Biostatistics and Epidemiology, Bioinformatics and Data Management Center, University of Oklahoma Health Sciences Center, Oklahoma, OK, USA

    Derek Blankenship

  3. Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma, OK, USA

    Eliot Schechter

  4. University of Oklahoma Prevention Research Center, University of Oklahoma Health Sciences Center, Oklahoma, OK, USA

    William Moore & June Eichner

  5. Kansas Department of Health and Environment, Topeka, KS, USA

    Ghazala Perveen

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  1. Terence Dunn
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Correspondence to Terence Dunn.

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Dunn, T., Blankenship, D., Beal, N. et al. HFE mutations in heart disease. Heart Vessels 23, 348–355 (2008). https://doi.org/10.1007/s00380-008-1047-8

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