Genetic modifiers of penetrance to liver endpoints in HFE hemochromatosis: Associations in a large community cohort.

Luke C Pilling Janice C AtkinsDavid Melzer

Published in: Hepatology (Baltimore, Md.) (2022)

HFE p.C282Y homozygote penetrance to clinical disease in a large community cohort was partly explained by common genetic variants that influence iron and risks of related diagnoses in the general population, including polygenic scores in HH screening and diagnosis, may help in estimating prognosis and treatment planning.

Keyphrases

mental health
healthcare
genome wide
human health
gene expression
risk assessment
copy number
iron deficiency