title: HFE mutations in heart disease.
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 microg/l) and without (275 microg/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.
authors.affiliation: Department of Pathology, University of Oklahoma Health Sciences Center, BMSB451, P.O. Box 26901, Oklahoma, OK 73190, USA. terry-dunn@ouhsc.edu
authors.forename: Terence
authors.initials: T
authors.lastname: Dunn
authors.forename: Derek
authors.initials: D
authors.lastname: Blankenship
authors.forename: Nicole
authors.initials: N
authors.lastname: Beal
authors.forename: Richard
authors.initials: R
authors.lastname: Allen
authors.forename: Eliot
authors.initials: E
authors.lastname: Schechter
authors.forename: William
authors.initials: W
authors.lastname: Moore
authors.forename: Ghazala
authors.initials: G
authors.lastname: Perveen
authors.forename: June
authors.initials: J
authors.lastname: Eichner
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004247:DNA / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006331:Heart Diseases / Q000097:blood / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D011379:Prognosis; D012189:Retrospective Studies
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D004247:DNA