Hemochromatosis Mutations, Brain Iron Imaging, and Dementia in the UK Biobank Cohort.

ABSTRACT:

Background

Brain iron deposition occurs in dementia. In European ancestry populations, the HFE p.C282Y variant can cause iron overload and hemochromatosis, mostly in homozygous males.

Objective

To estimate p.C282Y associations with brain MRI features plus incident dementia diagnoses during follow-up in a large community cohort.

Methods

UK Biobank participants with follow-up hospitalization records (mean 10.5 years). MRI in 206 p.C282Y homozygotes versus 23,349 without variants, including T2* measures (lower values indicating more iron).

Results

European ancestry participants included 2,890 p.C282Y homozygotes. Male p.C282Y homozygotes had lower T2* measures in areas including the putamen, thalamus, and hippocampus, compared to no HFE mutations. Incident dementi

SUBMITTER: Atkins JL 

PROVIDER: S-EPMC7990419 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature