- Title
- Hemochromatosis mutations, brain iron imaging, and dementia in the UK Biobank cohort
- Creator
- Atkins, Janice L.; Pilling, Luke C.; Heales, Christine J.; Savage, Sharon; Kuo, Chia-Ling; Kuchel, George A.; Steffens, David C.; Melzer, David
- Relation
- Journal of Alzheimer's Disease Vol. 79, Issue 3, p. 1203-1211
- Publisher Link
- http://dx.doi.org/10.3233/JAD-201080
- Publisher
- IOS Press
- Resource Type
- journal article
- Date
- 2021
- Description
- 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 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. Conclusion: Studies are needed of whether early iron reduction prevents or slows related brain pathologies in male HFE p.C282Y homozygotes.
- Subject
- cohort; dementia; delirium; gene; hemochromatosis; iron; mutation
- Identifier
- http://hdl.handle.net/1959.13/1433331
- Identifier
- uon:39219
- Identifier
- ISSN:1387-2877
- Language
- eng
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