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Chunk #23 — Discussion

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APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
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The current study has several limitations. Although this represents the largest genetic study of Aβ PET, the sample size has limited power for a GWAS. With a larger sample, the suggestive loci we highlighted might have achieved genome-wide significance. Among these included ITGA6 which encodes a component of a receptor complex proposed to mediate the pro-inflammatory interaction of microglia with Aβ fibrils,43 PIK3R1 which may contribute to disruptions in insulin signaling in the AD brain,44 and other genes with potential relationships to AD pathogenesis. Similarly, given the novelty of the present Aβ PET GWAS dataset, a comparable replication sample is not yet available.