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Chunk #8 — Results — Cis-eQTL associations and colocalization analysis

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A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.
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(Fig. 2b, Supplementary Fig. 4). However, MYBPC3/Mybpc3 (a myosin binding protein expressed at high levels in cardiac muscle cells) is either not expressed or expressed at low levels in human and mouse microglia, respectively. Amongst all genes probed, MYBPC3 (ILMN_1781184) expression is the most highly and significantly correlated with SPI1 (ILMN_1696463) expression in both Cardiogenics datasets (Spearman’s rho = 0.54, qval = 0.00 in monocytes and Spearman’s rho = 0.42, qval = 0.00 in macrophages) suggesting that low levels of MYBPC3 expression in human myeloid cells are possibly due to leaky transcription driven by the adjacent highly expressed SPI1 gene.