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Chunk #9 — 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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We performed the coloc test32 to determine whether AAOS-associated SNPs co-localize with myeloid cis-eQTLs at the SPI1/CELF1, MS4A and SELL loci. These analyses (Supplementary Table 8) highlighted SPI1 at the SPI1/CELF1 locus as the strongest and most consistent colocalization target, and the only gene where the AD survival and gene expression association signals are likely (posterior probability ≥ 0.8) driven by the same causal genetic variant, in both monocytes and macrophages (PP.H4.abf of 0.85 and 0.83, respectively). MYBPC3 in the SPI1/CELF1 locus and MS4A6A in the MS4A locus also showed evidence of colocalization in both myeloid cell types albeit not surviving posterior probability cutoff in one of them. MS4A4A and MS4A6E in the MS4A locus showed evidence of co-localization only in monocytes, while SELL did not show evidence of colocalization.