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HFE mutations in heart disease

Terence Dunn1, Derek Blankenship, Nicole Beal

  • 1Department of Pathology, University of Oklahoma Health Sciences Center, BMSB451, P.O. Box 26901, Oklahoma, OK 73190, USA. terry-dunn@ouhsc.edu

Heart and Vessels
|September 24, 2008
PubMed

Insights

HFE gene mutations, common in the population, were studied in cardiac patients. The S65C mutation showed a link to cardiomyopathy, but HFE mutations did not significantly impact coronary artery disease or cardiovascular death.

Area of Science:

  • Cardiovascular Genetics
  • Hereditary Metabolic Disorders

Background:

  • Hereditary hemochromatosis is linked to cardiac issues.
  • HFE gene mutations are prevalent in Caucasian populations.
  • Investigating HFE mutations in cardiac patients may reveal disease associations.

Purpose of the Study:

  • To examine the association of HFE gene mutations (H63D, C282Y, S65C) with cardiac conditions.
  • To determine if HFE mutations correlate with ferritin/transferrin levels, coronary artery disease (CAD), cardiomyopathy (CM), or cardiovascular disease (CVD) mortality.

Main Methods:

  • Genotyping of HFE mutations in 477 Caucasian males undergoing coronary angiography.
  • Analysis of ferritin and transferrin levels.
  • Logistic regression to assess associations with CAD, CM, and CVD mortality.

Main Results:

  • No significant difference in ferritin levels across HFE genotypes.
  • A significant difference in transferrin levels was observed for the C282Y mutation.
  • The S65C mutation was associated with an increased risk of cardiomyopathy (OR 4.4, P=0.018).
  • No significant association found between HFE mutations and CAD or CVD mortality.

Conclusions:

  • The S65C HFE allele may contribute to the development of cardiomyopathy.
  • HFE mutations (H63D, C282Y, S65C) do not appear to be significant factors in the development of ischemic heart disease.

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