Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.
de Tayrac M, Roth MP, Jouanolle AM et al.
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Background & aims: Hereditary hemochromatosis (HH) is the most common form of genetic iron loading disease. It is mainly related to the homozygous C282Y/C282Y mutation in the HFE gene that is, however, a necessary but not a sufficient condition to develop clinical and even biochemical HH. This suggests that modifier genes are likely involved in the expressivity of the disease. Our aim was to identify such modifier genes.
474 European ancestry cases
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