Heritability of Serum Iron, Ferritin and Transferrin Saturation in a Genetically Isolated Population, the Erasmus Rucphen Family (ERF) Study

Background: Iron has been implicated in the pathogenesis of various disorders. Mutations in the HFE gene are associated with an increase in serum iron parameters. The aim of this study was to estimate the heritability in serum iron parameters explained by HFE. Methods: Ninety families (980 subjects)...

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Bibliographic Details
Published in:Human heredity 2006-01, Vol.61 (4), p.222-228
Main Authors: Njajou, O.T., Alizadeh, B.Z., Aulchenko, Y., Zillikens, M.C., Pols, H.A.P., Oostra, B.A., Swinkels, D.W., van Duijn, C.M.
Format: Article
Language:English
Subjects:
Estimating techniques
Female
Ferritins - blood
Genetics
Genotype
Genotype & phenotype
Hemochromatosis Protein
Heredity
Histocompatibility Antigens Class I - genetics
Humans
Iron
Iron - blood
Male
Membrane Proteins - genetics
Middle Aged
Original Paper
Phenotype
Quantitative Trait, Heritable
Transferrin - metabolism
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Summary:Background: Iron has been implicated in the pathogenesis of various disorders. Mutations in the HFE gene are associated with an increase in serum iron parameters. The aim of this study was to estimate the heritability in serum iron parameters explained by HFE. Methods: Ninety families (980 subjects) were included in the present analysis. Heritability estimation was conducted using the variance component method. The likelihood ratio test was used to compare models. Phenotypic and genetic correlations between serum iron parameters were calculated. Results: The heritability (h 2 ± SE) estimates were 0.23 ± 0.07 (p < 0.0001) for iron, 0.29 ± 0.09 (p < 0.0001) for ferritin and 0.28 ± 0.07 (p < 0.0001) for transferrin saturation while adjusting for age, age 2 and sex. The HFE genotypes explained between 2 to 6% of the sex and age-adjusted variance in serum iron, ferritin and transferrin saturation. There was a high genetic correlation between serum iron parameters, suggesting pleiotropy between these traits. Conclusion: A substantial proportion of the variance of iron, ferritin and transferrin saturation can be explained by additive genetic effects, independent of sex and age. The HFE genotypes explained a considerable proportion of serum iron parameters and may be an important factor in the complex iron network.
ISSN:0001-5652
1423-0062
DOI:10.1159/000094777