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Associations between rare microglia-linked Alzheimer's disease risk variants and subcortical brain volumes in young individuals

Lancaster, Thomas M. 2019. Associations between rare microglia-linked Alzheimer's disease risk variants and subcortical brain volumes in young individuals. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring 11 , pp. 368-373. 10.1016/j.dadm.2019.03.005

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Abstract

Introduction Recent exome sequencing studies have identified three novel risk variants associated with Alzheimer's disease (AD). However, the mechanisms by which these variants confer risk are largely unknown. Methods In the present study, the impact of these rare coding variants (in ABI3, PLCG2, and TREM2) on all subcortical volumes is determined in a large sample of young healthy individuals (N = 756–765; aged 22–35 years). Results After multiple testing correction (PCORRECTED < .05), rare variants were associated with basal ganglia volumes (TREM2 and PLCG2 effects within the putamen and pallidum, respectively). Nominal associations between TREM2 and reduced hippocampal and thalamic volumes were also observed. Discussion Our observations suggest that rare variants in microglia-mediated immunity pathway may contribute to the subcortical alterations observed in AD cases. These observations provide further evidence that genetic risk for AD may influence the volume of subcortical volumes and increase AD risk in early life processes.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Psychology
Cardiff University Brain Research Imaging Centre (CUBRIC)
Publisher: Elsevier
ISSN: 2352-8729
Funders: Wellcome Trust
Date of First Compliant Deposit: 14 May 2019
Date of Acceptance: 25 March 2019
Last Modified: 17 May 2019 09:52
URI: http://orca.cf.ac.uk/id/eprint/122388

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