Abstract
IntroductionRecent 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. MethodsIn 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). ResultsAfter 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. DiscussionOur 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.
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