Article
Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.
Journal of hepatology - 1 Mar 2015
de Tayrac Marie, Roth Marie-Paule, Jouanolle Anne-Marie, Coppin Hélène, le Gac Gérald, Piperno Alberto, Férec Claude, Pelucchi Sara, Scotet Virginie, Bardou-Jacquet Edouard, Ropert Martine, Bouvet Régis, Génin Emmanuelle, Mosser Jean, Deugnier Yves
Abstract excerpt
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...
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