A Pilot Genome-Wide Association Study of Brain Glucose Metabolism Levels in Alzheimer’s Disease Based on 18F-FDG PET

18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET) could detect glucose metabolism in various brain regions and reflect brain neuronal activity. For Alzheimer’s disease (AD), decreased brain 18F-FDG metabolism is generally considered a biomarker of neurodegeneration. In this study, the genome-wide association study (GWAS) for 155 subjects was performed with the endophenotype 18F-FDG metabolism to identify novel genetic loci correlated with 18F-FDG metabolism decline in brain regions. Applying SPM, 18F-FDG PET images were preprocessed and standardized uptake values (SUVs) were taken out for 90 brain regions in accordance with the Anatomical Automatic Labeling (AAL) atlas. Ultimately, the SUVs of 12 significant brain regions were included in the GWAS under the additive genetic model. It was discovered that locus rs4734853 showed a significant association with the decreased 18F-FDG metabolism in the left amygdala (P = 8.49 × 10–12). Further investigation is warranted to explain its biological pathway.