Article
Genetic modifiers of penetrance to liver endpoints in HFE hemochromatosis: Associations in a large community cohort.
Hepatology (Baltimore, Md.) - 1 Dec 2022
Pilling Luke C, Atkins Janice L, Melzer David
Abstract excerpt
BACKGROUND: The iron overload condition hereditary hemochromatosis (HH) can cause liver cirrhosis and cancer, diabetes, and arthritis. Males homozygous for the p.C282Y missense mutation in the Homeostatin Iron Regulator (HFE) gene have greatest risk; yet, only a minority develop these conditions. We aimed to determine whether common genetic variants influencing iron levels or liver disease risk in the general...
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