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Chunk #32 — Discussion

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Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.
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between two studies on brain tissue, which may partly be due to low statistical power [26], [46]. In the present study, 37 – 52% of the genes mapped by cis eQTLs in human brain tissue studies appeared to be present in our data (Table S4). The proportion of overlap with studies on blood-derived tissues was comparable (41 – 45%). Considering the relatively high concordance of genes mapped by cis eQTLs in our screen with those found in human brain tissue, we consider blood to be a valid starting point for genetic mapping of gene expression in ALS. A large collection of central nervous system tissue control samples may, however, further boost the discovery of novel genetic variants that are associated with ALS.