Both RNAseq and digital droplet qPCR (dd-qPCR) analysis showed that the expression of PTK2B was only modestly reduced by the introduction of the C allele in macrophages (RNAseq: p = 0.019 and log2FC = −0.2, ddqPCR: p = 0.02 and log2FC = −0.39) ( Figure 2 D) and microglia (RNAseq: p = 0.06 log2FC = −0.57, ddqPCR: p = 0.29 and log2FC = −0.71) ( Figure 2 E) and it was only borderline significant with ddqPCR in macrophages and not microglia.
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An Alzheimer's disease-associated common regulatory variant in a <i>PTK2B</i> intron alters microglial function.
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We also found a subtle upregulation of CLU expression at borderline significance in macrophages but not in microglia expressing the C/C allele, making it difficult to make a definite conclusion on whether rs28834970 affects the expression of either PTK2B or CLU or a combination of the two.