Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis
L Valenti, AL Fracanzani, R Rametta, M Fraquelli… - Journal of …, 2012 - Elsevier
BACKGROUND & AIMS: Hereditary hemochromatosis (HH) is most frequently related to
homozygosity for the p. C282Y HFE mutation (C282Y+/+), hampering hepcidin induction in
response to iron. The rs855791 polymorphism, encoding for the p. A736V variant of
TMPRSS6 regulating hepcidin, influences iron status in the population. The aim of this study
was to assess the influence of rs855791 on the penetrance and clinical expression of HH.
METHODS: We retrospectively considered 315 HH patients (163 C282Y+/+, and 152 with …
homozygosity for the p. C282Y HFE mutation (C282Y+/+), hampering hepcidin induction in
response to iron. The rs855791 polymorphism, encoding for the p. A736V variant of
TMPRSS6 regulating hepcidin, influences iron status in the population. The aim of this study
was to assess the influence of rs855791 on the penetrance and clinical expression of HH.
METHODS: We retrospectively considered 315 HH patients (163 C282Y+/+, and 152 with …