Heart and Vessels

, Volume 23, Issue 5, pp 348–355

HFE mutations in heart disease

  • Terence Dunn
  • Derek Blankenship
  • Nicole Beal
  • Richard Allen
  • Eliot Schechter
  • William Moore
  • Ghazala Perveen
  • June Eichner
Original Article

DOI: 10.1007/s00380-008-1047-8

Cite this article as:
Dunn, T., Blankenship, D., Beal, N. et al. Heart Vessels (2008) 23: 348. doi:10.1007/s00380-008-1047-8
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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.

Key words

Hemochromatosis Coronary artery disease Heart disease Cardiomyopathy HFE gene 

Copyright information

© Springer Japan 2008

Authors and Affiliations

  • Terence Dunn
    • 1
  • Derek Blankenship
    • 2
  • Nicole Beal
    • 1
  • Richard Allen
    • 1
  • Eliot Schechter
    • 3
  • William Moore
    • 4
  • Ghazala Perveen
    • 5
  • June Eichner
    • 4
  1. 1.Department of PathologyUniversity of Oklahoma Health Sciences Center, BMSB451OklahomaUSA
  2. 2.Department of Biostatistics and Epidemiology, Bioinformatics and Data Management CenterUniversity of Oklahoma Health Sciences CenterOklahomaUSA
  3. 3.Department of MedicineUniversity of Oklahoma Health Sciences CenterOklahomaUSA
  4. 4.University of Oklahoma Prevention Research CenterUniversity of Oklahoma Health Sciences CenterOklahomaUSA
  5. 5.Kansas Department of Health and EnvironmentTopekaUSA
  6. 6.Baylor Health Care SystemInstitute for Health Care Research and ImprovementDallasUSA

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