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Chunk #5 — Introduction

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Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.
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A schematic overview of our study design is shown in Figure 1. We performed an initial screen for eQTLs in an eQTL discovery set. The eQTL SNPs resulting from this screen that had a nominally significant effect in a discovery set from our previously published GWAS [7] were selected for follow-up in the eQTL replication set. Ultimately, replicated eQTLs were tested for significant effects in the GWAS replication data, correcting for multiple testing.