Hemochromatosis Mutations, Brain Iron Imaging, and Dementia in the UK Biobank Cohort
dc.contributor.author | Atkins, JL | |
dc.contributor.author | Pilling, LC | |
dc.contributor.author | Heales, CJ | |
dc.contributor.author | Savage, S | |
dc.contributor.author | Kuo, C-L | |
dc.contributor.author | Kuchel, GA | |
dc.contributor.author | Steffens, DC | |
dc.contributor.author | Melzer, D | |
dc.date.accessioned | 2021-01-14T09:24:25Z | |
dc.date.issued | 2021-01-03 | |
dc.description.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 estimated 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. | en_GB |
dc.description.sponsorship | Medical Research Council (MRC) | en_GB |
dc.description.sponsorship | University of Connecticut School of Medicine | en_GB |
dc.description.sponsorship | University of Exeter | en_GB |
dc.identifier.citation | Published online 3 January 2021 | en_GB |
dc.identifier.doi | 10.3233/jad-201080 | |
dc.identifier.grantnumber | MR/S009892/1 | en_GB |
dc.identifier.uri | http://hdl.handle.net/10871/124389 | |
dc.language.iso | en | en_GB |
dc.publisher | IOS Press | en_GB |
dc.rights | © 2020 – IOS Press and the authors. This article is published online with Open Access and distributed under the terms of the Creative Commons Attribution Non-Commercial License (CC BY-NC 4.0). | en_GB |
dc.subject | Cohort | en_GB |
dc.subject | dementia | en_GB |
dc.subject | delirium | en_GB |
dc.subject | gene | en_GB |
dc.subject | hemochromatosis | en_GB |
dc.subject | iron | en_GB |
dc.subject | mutation | en_GB |
dc.title | Hemochromatosis Mutations, Brain Iron Imaging, and Dementia in the UK Biobank Cohort | en_GB |
dc.type | Article | en_GB |
dc.date.available | 2021-01-14T09:24:25Z | |
dc.identifier.issn | 1387-2877 | |
dc.description | This is the author accepted manuscript. The final version is available on open access from IOS Press via the DOI in this record | en_GB |
dc.identifier.journal | Journal of Alzheimer's Disease | en_GB |
dc.rights.uri | https://creativecommons.org/licenses/by-nc/4.0/ | en_GB |
dcterms.dateAccepted | 2020-11-20 | |
exeter.funder | ::Medical Research Council (MRC) | en_GB |
rioxxterms.version | AM | en_GB |
rioxxterms.licenseref.startdate | 2021-01-03 | |
rioxxterms.type | Journal Article/Review | en_GB |
refterms.dateFCD | 2021-01-14T09:20:53Z | |
refterms.versionFCD | AM | |
refterms.dateFOA | 2021-01-14T09:24:44Z | |
refterms.panel | A | en_GB |
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This article is published online with Open Access and distributed under the terms of the Creative Commons Attribution Non-Commercial License (CC BY-NC 4.0).