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

ABSTRACT:

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 population also modify clinical penetrance in HFE p.C282Y and p.H63D carriers.

Methods

We studied 1294 male and 1596 female UK Biobank HFE p.C282Y homozygous participants of European ancestry with medical records up to 14 years after baseline assessment. Polygenic scores quantified genetic effects of blood iron biomarkers and relevant diseases (identified in the general

SUBMITTER: Pilling LC 

PROVIDER: S-EPMC9796074 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature