title: Hemochromatosis gene variants in patients with cardiomyopathy.
abstract: Iron depletion was suggested to be protective against the development of ischemic heart disease. Population studies have led to conflicting results, and such an association has not been addressed in patients with heart failure due to cardiomyopathy. We studied the distribution of hemochromatosis-related mutations in 319 patients with heart failure due to cardiomyopathy of different etiologies. The genotypic distribution showed a significantly higher prevalence of heterozygotes for the C282Y mutation in patients with ischemic cardiomyopathy than in patients with cardiomyopathy of nonischemic etiologies (p = 0.0036). The frequency of the D63 mutation was not significantly different between ischemic versus nonischemic groups. In multiple logistic regression models adjusted for age, sex, ethnicity, and different degrees of disease progression, there was a strong and significant association of the C282Y mutation with ischemic cardiomyopathy compared with the nonischemic group (odds ratio 6.64, 95% confidence interval 1.71 to 25.73, after adjustment). In our sample, genetic variation in the HFE gene was associated with ischemic cardiomyopathy. Such association merits further study regarding its value as a prognostic marker in patients with ischemic heart disease.
authors.affiliation: Heart Institute (InCor) and Internal Medicine Department, São Paulo University Medical School, São Paulo, Brazil.
authors.forename: A C
authors.initials: AC
authors.lastname: Pereira
authors.forename: M A
authors.initials: MA
authors.lastname: Cuoco
authors.forename: G F
authors.initials: GF
authors.lastname: Mota
authors.forename: F F
authors.initials: FF
authors.lastname: da Silva
authors.forename: H F
authors.initials: HF
authors.lastname: Freitas
authors.forename: E A
authors.initials: EA
authors.lastname: Bocchi
authors.forename: J M
authors.initials: JM
authors.lastname: Soler
authors.forename: A J
authors.initials: AJ
authors.lastname: Mansur
authors.forename: J E
authors.initials: JE
authors.lastname: Krieger
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001224:Aspartic Acid / Q000235:genetics; D009202:Cardiomyopathies / Q000150:complications*; D003545:Cysteine / Q000235:genetics; D018450:Disease Progression; D005260:Female; D005838:Genotype; D006333:Heart Failure / Q000209:etiology; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics*; D006639:Histidine / Q000235:genetics; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D011379:Prognosis; D014443:Tyrosine / Q000235:genetics
chemical_list: D001224:Aspartic Acid; D014443:Tyrosine; D006639:Histidine; D003545:Cysteine