| Title: | Hemochromatosis Mutations, Brain Iron Imaging, and Dementia in the UK Biobank Cohort |
| Journal: | Journal of Alzheimer's Disease |
| Published: | 2 Feb 2021 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/33427739/ |
| DOI: | https://doi.org/10.3233/jad-201080 |
| URL: | https://content.iospress.com:443/download/journal-of-alzheimers-disease/jad201080?id=journal-of-alzheimers-disease%2Fjad201080 |
Publication 5124
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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.</p>
OBJECTIVE: To estimate p.C282Y associations with brain MRI features plus incident dementia diagnoses during follow-up in a large community cohort.</p>
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).</p>
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 dementia was more common in p.C282Y homozygous men (Hazard Ratio HR = 1.83; 95% CI 1.23 to 2.72, p = 0.003), as was delirium. There were no associations in homozygote women or in heterozygotes.</p>
CONCLUSION: Studies are needed of whether early iron reduction prevents or slows related brain pathologies in male HFE p.C282Y homozygotes.</p>
18 Keywords
- Adult
- Aged
- Brain
- Brain Chemistry
- Databases as Topic
- Dementia
- Female
- Hemochromatosis
- Hemochromatosis Protein
- Humans
- Iron
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Mutation
- Neuroimaging
- Sex Factors
- United Kingdom
8 Authors
- Janice L. Atkins
- Luke C. Pilling
- Christine J. Heales
- Sharon Savage
- Chia-Ling Kuo
- George A. Kuchel
- David C. Steffens
- David Melzer
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